Full data view for gene PTCH1

Information The variants shown are described using the NM_000264.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.395-8153C>T - r.(=) p.(=) - Unknown g.95494027G>A dbSNP PTCH1_000007 0.083 Control 59 712 DNA TaqMan Healthy/Control de Araujo TK et al (2016) de Araujo TK et al (2016) Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations) 358 Admin
./. - c.395-8153C>T - r.(=) p.(=) - Unknown g.95494027G>A dbSNP PTCH1_000007 0.058 Patients_Q37.4 6 104 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.4 (IDC-10 Version 2016) 53 Admin
./. - c.395-8153C>T - r.(=) p.(=) - Unknown g.95494027G>A dbSNP PTCH1_000007 0.050 Patients_Q37.5_left 6 120 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Left (IDC-10 Version 2016) 60 Admin
./. - c.395-8153C>T - r.(=) p.(=) - Unknown g.95494027G>A dbSNP PTCH1_000007 0.062 Patients_Q37.5_right 3 48 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Right (IDC-10 Version 2016) 24 Admin
./. - c.395-8153C>T - r.(=) p.(=) - Unknown g.95494027G>A dbSNP PTCH1_000007 0.069 Patients_Q37 4 58 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37 (IDC-10 Version 2016) 30 Admin
./. - c.395-8079A>C - r.(=) p.(=) - Unknown g.95493953T>G dbSNP PTCH1_000006 0.085 Control 60 710 DNA TaqMan Healthy/Control de Araujo TK et al (2016) de Araujo TK et al (2016) Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations) 358 Admin
./. - c.395-8079A>C - r.(=) p.(=) - Unknown g.95493953T>G dbSNP PTCH1_000006 0.250 Patients_Q37.2 1 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.2 (IDC-10 Version 2016) 2 Admin
./. - c.395-8079A>C - r.(=) p.(=) - Unknown g.95493953T>G dbSNP PTCH1_000006 0.167 Patients_Q37.3_right 1 6 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.3 Right (IDC-10 Version 2016) 3 Admin
./. - c.395-8079A>C - r.(=) p.(=) - Unknown g.95493953T>G dbSNP PTCH1_000006 0.047 Patients_Q37.4 5 106 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.4 (IDC-10 Version 2016) 53 Admin
./. - c.395-8079A>C - r.(=) p.(=) - Unknown g.95493953T>G dbSNP PTCH1_000006 0.083 Patients_Q37.5_left 10 120 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Left (IDC-10 Version 2016) 60 Admin
./. - c.395-8079A>C - r.(=) p.(=) - Unknown g.95493953T>G dbSNP PTCH1_000006 0.021 Patients_Q37.5_right 1 48 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Right (IDC-10 Version 2016) 24 Admin
./. - c.395-8079A>C - r.(=) p.(=) - Unknown g.95493953T>G dbSNP PTCH1_000006 0.017 Patients_Q37 1 58 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37 (IDC-10 Version 2016) 30 Admin
./. - c.747-55T>C - r.(=) p.(=) - Unknown g.95480643A>G dbSNP PTCH1_000005 0.210 Control 150 714 DNA TaqMan Healthy/Control de Araujo TK et al (2016) de Araujo TK et al (2016) Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations) 358 Admin
./. - c.747-55T>C - r.(=) p.(=) - Unknown g.95480643A>G dbSNP PTCH1_000005 0.500 Patients_Q37.2 2 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.2 (IDC-10 Version 2016) 2 Admin
./. - c.747-55T>C - r.(=) p.(=) - Unknown g.95480643A>G dbSNP PTCH1_000005 0.333 Patients_Q37.3_right 2 6 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.3 Right (IDC-10 Version 2016) 3 Admin
./. - c.747-55T>C - r.(=) p.(=) - Unknown g.95480643A>G dbSNP PTCH1_000005 0.198 Patients_Q37.4 21 106 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.4 (IDC-10 Version 2016) 53 Admin
./. - c.747-55T>C - r.(=) p.(=) - Unknown g.95480643A>G dbSNP PTCH1_000005 0.500 Patients_Q37.5 2 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 (IDC-10 Version 2016) 2 Admin
./. - c.747-55T>C - r.(=) p.(=) - Unknown g.95480643A>G dbSNP PTCH1_000005 0.212 Patients_Q37.5_left 25 118 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Left (IDC-10 Version 2016) 60 Admin
./. - c.747-55T>C - r.(=) p.(=) - Unknown g.95480643A>G dbSNP PTCH1_000005 0.152 Patients_Q37.5_right 7 46 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Right (IDC-10 Version 2016) 24 Admin
./. - c.747-55T>C - r.(=) p.(=) - Unknown g.95480643A>G dbSNP PTCH1_000005 0.207 Patients_Q37 12 58 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37 (IDC-10 Version 2016) 30 Admin
./. - c.1504-51C>G - r.(=) p.(=) - Unknown g.95476908G>C dbSNP PTCH1_000004 0.284 Control 203 714 DNA TaqMan Healthy/Control de Araujo TK et al (2016) de Araujo TK et al (2016) Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations) 358 Admin
./. - c.1504-51C>G - r.(=) p.(=) - Unknown g.95476908G>C dbSNP PTCH1_000004 0.250 Patients_Q37.2 1 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.2 (IDC-10 Version 2016) 2 Admin
./. - c.1504-51C>G - r.(=) p.(=) - Unknown g.95476908G>C dbSNP PTCH1_000004 0.500 Patients_Q37.3_left 2 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.3 Left (IDC-10 Version 2016) 2 Admin
./. - c.1504-51C>G - r.(=) p.(=) - Unknown g.95476908G>C dbSNP PTCH1_000004 0.500 Patients_Q37.3_right 3 6 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.3 Right (IDC-10 Version 2016) 3 Admin
./. - c.1504-51C>G - r.(=) p.(=) - Unknown g.95476908G>C dbSNP PTCH1_000004 0.212 Patients_Q37.4 22 104 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.4 (IDC-10 Version 2016) 53 Admin
./. - c.1504-51C>G - r.(=) p.(=) - Unknown g.95476908G>C dbSNP PTCH1_000004 0.500 Patients_Q37.5 2 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 (IDC-10 Version 2016) 2 Admin
./. - c.1504-51C>G - r.(=) p.(=) - Unknown g.95476908G>C dbSNP PTCH1_000004 0.300 Patients_Q37.5_left 36 120 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Left (IDC-10 Version 2016) 60 Admin
./. - c.1504-51C>G - r.(=) p.(=) - Unknown g.95476908G>C dbSNP PTCH1_000004 0.250 Patients_Q37.5_right 12 48 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Right (IDC-10 Version 2016) 24 Admin
./. - c.1504-51C>G - r.(=) p.(=) - Unknown g.95476908G>C dbSNP PTCH1_000004 0.224 Patients_Q37 13 58 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37 (IDC-10 Version 2016) 30 Admin
./. - c.1686C>T - r.(=) p.(=) - Unknown g.95476076G>A dbSNP PTCH1_000003 0.172 Control 123 714 DNA TaqMan Healthy/Control de Araujo TK et al (2016) de Araujo TK et al (2016) Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations) 358 Admin
./. - c.1686C>T - r.(=) p.(=) - Unknown g.95476076G>A dbSNP PTCH1_000003 0.250 Patients_Q37.2 1 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.2 (IDC-10 Version 2016) 2 Admin
./. - c.1686C>T - r.(=) p.(=) - Unknown g.95476076G>A dbSNP PTCH1_000003 0.333 Patients_Q37.3_right 2 6 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.3 Right (IDC-10 Version 2016) 3 Admin
./. - c.1686C>T - r.(=) p.(=) - Unknown g.95476076G>A dbSNP PTCH1_000003 0.104 Patients_Q37.4 11 106 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.4 (IDC-10 Version 2016) 53 Admin
./. - c.1686C>T - r.(=) p.(=) - Unknown g.95476076G>A dbSNP PTCH1_000003 0.500 Patients_Q37.5 2 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 (IDC-10 Version 2016) 2 Admin
./. - c.1686C>T - r.(=) p.(=) - Unknown g.95476076G>A dbSNP PTCH1_000003 0.125 Patients_Q37.5_left 15 120 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Left (IDC-10 Version 2016) 60 Admin
./. - c.1686C>T - r.(=) p.(=) - Unknown g.95476076G>A dbSNP PTCH1_000003 0.125 Patients_Q37.5_right 6 48 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Right (IDC-10 Version 2016) 24 Admin
./. - c.1686C>T - r.(=) p.(=) - Unknown g.95476076G>A dbSNP PTCH1_000003 0.172 Patients_Q37 10 58 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37 (IDC-10 Version 2016) 30 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - Unknown g.95447312G>A dbSNP PTCH1_000002 0.355 Control 250 704 DNA TaqMan Healthy/Control de Araujo TK et al (2016) de Araujo TK et al (2016) Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations) 358 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - Unknown g.95447312G>A dbSNP PTCH1_000002 0.750 Patients_Q37.3_left 3 4 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.3 Left (IDC-10 Version 2016) 2 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - Unknown g.95447312G>A dbSNP PTCH1_000002 0.333 Patients_Q37.3_right 2 6 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.3 Right (IDC-10 Version 2016) 3 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - Unknown g.95447312G>A dbSNP PTCH1_000002 0.363 Patients_Q37.4 37 102 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.4 (IDC-10 Version 2016) 53 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - Unknown g.95447312G>A dbSNP PTCH1_000002 0.345 Patients_Q37.5_left 40 116 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Left (IDC-10 Version 2016) 60 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - Unknown g.95447312G>A dbSNP PTCH1_000002 0.333 Patients_Q37.5_right 16 48 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Right (IDC-10 Version 2016) 24 Admin
./. - c.3944C>T - r.(?) p.(Pro1315Leu) - Unknown g.95447312G>A dbSNP PTCH1_000002 0.397 Patients_Q37 23 58 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37 (IDC-10 Version 2016) 30 Admin
./. - c.*1373G>C - r.(=) p.(=) - Unknown g.95445020C>G dbSNP PTCH1_000001 0.071 Control 51 714 DNA TaqMan Healthy/Control de Araujo TK et al (2016) de Araujo TK et al (2016) Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations) 358 Admin
./. - c.*1373G>C - r.(=) p.(=) - Unknown g.95445020C>G dbSNP PTCH1_000001 0.087 Patients_Q37.4 9 104 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.4 (IDC-10 Version 2016) 53 Admin
./. - c.*1373G>C - r.(=) p.(=) - Unknown g.95445020C>G dbSNP PTCH1_000001 0.050 Patients_Q37.5_left 6 120 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Left (IDC-10 Version 2016) 60 Admin
./. - c.*1373G>C - r.(=) p.(=) - Unknown g.95445020C>G dbSNP PTCH1_000001 0.042 Patients_Q37.5_right 2 48 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37.5 Right (IDC-10 Version 2016) 24 Admin
./. - c.*1373G>C - r.(=) p.(=) - Unknown g.95445020C>G dbSNP PTCH1_000001 0.069 Patients_Q37 4 58 DNA TaqMan NSCLP de Araujo TK et al (2016) de Araujo TK et al (2016) Q37 (IDC-10 Version 2016) 30 Admin
Legend