Variant #0000547290 (NC_000012.11:g.14822659G>A, GUCY2C(NM_004963.3):c.1279C>T)

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.14822659G>A
DNA change (hg38) g.14669725G>A
Published as GUCY2C(NM_004963.3):c.1279C>T (p.R427W)
ISCN -
DB-ID GUCY2C_000014
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00051 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GUCY2C NM_004963.3 ?/. - c.1279C>T r.(?) p.(Arg427Trp)