Variant #0000000429 (NC_000017.10:g.29552195T>C, NM_000267.3:c.1928T>C (NF1))

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.29552195T>C
Reference -
DB-ID NF1_000010
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 2023-10-02 10:38:00 +00:00 (UTC)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 ?/? 17 c.1928T>C r.? p.(Met643Thr)
NF1 NM_001042492.3 ?/? 17 c.1928T>C r.? p.(Met643Thr)