Variant #0000648173 (NC_000011.9:g.17491729C>T, ABCC8(NM_000352.3):c.331G>A)

Individual ID 00290316
Chromosome 11
Allele Parent #1
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.17491729C>T
DNA change (hg38) g.17470182C>T
Published as -
ISCN -
DB-ID ABCC8_000497
Variant remarks 3 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs761749884
Origin Germline
Segregation -
Frequency 3/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC8 NM_000352.3 +?/. - c.331G>A r.(?) p.(Gly111Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291484 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq