Variant #0000000092 (NC_000017.10:g.29654736C>T, NM_000267.3:c.5425C>T (NF1))

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29654736C>T
Reference -
DB-ID NF1_000006
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 2020-03-03 13:48:33 +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 +/+ 37 c.5425C>T r.(?) p.(Arg1809Cys)