Variant #0000805636 (NC_000012.11:g.14798223G>C, GUCY2C(NM_004963.3):c.1737C>G)

Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.14798223G>C
DNA change (hg38) -
Published as GUCY2C(NM_004963.3):c.1737C>G (p.Y579*)
ISCN -
DB-ID GUCY2C_000022
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 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GUCY2C NM_004963.3 +?/. - c.1737C>G r.(?) p.(Tyr579*)