Full data view for gene PTCH1

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

9 entries on 1 page. Showing entries 1 - 9.
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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.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
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