Variant #0000008892 (NC_000009.12:g.95467107C>G, PTCH1(NM_000264.4):c.2560+9G>C)

Individual ID 00001536
Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.95467107C>G
Reference -
DB-ID PTCH1_000002
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
PTCH1 NM_000264.4 -/- 15i c.2560+9G>C p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001809 DNA CNV;SEQ-NG Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) 27-nov-2019 Multigenetic panel - 116 Lina Nuñez-Private Practice