Variant #0000040204 (NC_000012.11:g.14772238A>G, GUCY2C(NM_004963.3):c.2782T>C)

Individual ID 00019772
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.14772238A>G
DNA change (hg38) g.14619304A>G
Published as -
ISCN -
DB-ID GUCY2C_000002 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Amanda Smith
Database submission license No license selected
Created by Amanda Smith
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GUCY2C NM_004963.3 +?/. 24 c.2782T>C r.(?) p.(Cys928Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019757 DNA PCR - - GUCY2C 2 Amanda Smith