Variant #0000650757 (NC_000020.10:g.25289111G>A, ABHD12(NM_001042472.2):c.769C>T)

Individual ID 00292900
Chromosome 20
Allele Parent #1
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.25289111G>A
DNA change (hg38) g.25308475G>A
Published as -
ISCN -
DB-ID ABHD12_000017 See all 5 reported entries
Variant remarks conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs41306784
Origin Germline
Segregation -
Frequency 2/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00102 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 ?/. - c.769C>T r.(?) p.(Arg257Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294068 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq