Variant #0000000381 (NC_000009.11:g.98240474G>T, NC_000009.11(NM_001083602.1):c.1018-6C>A (PTCH1))

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.98240474G>T
Reference -
DB-ID PTCH1_000003
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00037 View details
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Date created 2023-07-18 10:24:45 +00:00 (UTC)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTCH1 NM_001083602.1 -/? 9 c.1018-6C>A r.(=) p.(=)