Unique variants in gene PTCH1

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Owner     
./. 5 - c.395-8153C>T - r.(=) p.(=) - g.95494027G>A dbSNP PTCH1_000007 0.083 Control, 0.058 Patients_Q37.4, 0.050 Patients_Q37.5_left, 0.062 Patients_Q37.5_right, 1 more item 59, 6, 3, 4 712, 104, 120, 48, 58 Admin
./. 7 - c.395-8079A>C - r.(=) p.(=) - g.95493953T>G dbSNP PTCH1_000006 0.085 Control, 0.250 Patients_Q37.2, 0.167 Patients_Q37.3_right, 0.047 Patients_Q37.4, 3 more items 60, 1, 5, 10 710, 4, 6, 106, 120, 48, 58 Admin
./. 8 - c.747-55T>C - r.(=) p.(=) - g.95480643A>G dbSNP PTCH1_000005 0.210 Control, 0.500 Patients_Q37.2, 0.333 Patients_Q37.3_right, 0.198 Patients_Q37.4, 4 more items 150, 2, 21, 25, 7, 12 714, 4, 6, 106, 118, 46, 58 Admin
./. 9 - c.1504-51C>G - r.(=) p.(=) - g.95476908G>C dbSNP PTCH1_000004 0.284 Control, 0.250 Patients_Q37.2, 0.500 Patients_Q37.3_left, 0.500 Patients_Q37.3_right, 5 more items 203, 1, 2, 3, 22, 36, 12, 13 714, 4, 6, 104, 120, 48, 58 Admin
./. 8 - c.1686C>T - r.(=) p.(=) - g.95476076G>A dbSNP PTCH1_000003 0.172 Control, 0.250 Patients_Q37.2, 0.333 Patients_Q37.3_right, 0.104 Patients_Q37.4, 4 more items 123, 1, 2, 11, 15, 6, 10 714, 4, 6, 106, 120, 48, 58 Admin
./. 7 - c.3944C>T - r.(?) p.(Pro1315Leu) - g.95447312G>A dbSNP PTCH1_000002 0.355 Control, 0.750 Patients_Q37.3_left, 0.333 Patients_Q37.3_right, 0.363 Patients_Q37.4, 3 more items 250, 3, 2, 37, 40, 16, 23 704, 4, 6, 102, 116, 48, 58 Admin
./. 5 - c.*1373G>C - r.(=) p.(=) - g.95445020C>G dbSNP PTCH1_000001 0.071 Control, 0.087 Patients_Q37.4, 0.050 Patients_Q37.5_left, 0.042 Patients_Q37.5_right, 1 more item 51, 9, 6, 2, 4 714, 104, 120, 48, 58 Admin
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