Variant #0000000054 (NC_000009.11:g.98211499T>A, NM_001083602.1:c.3458A>T (PTCH1))

Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.98211499T>A
Reference -
DB-ID PTCH1_000001
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Date created 2018-12-07 13:23:16 +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 ./. 22 c.3458A>T r.(?) p.(Asp1153Val)