Variant #0000669604 (NC_000002.11:g.215910724T>G, ABCA12(NM_173076.2):c.709A>C)

Individual ID 00304787
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.215910724T>G
DNA change (hg38) g.215046000T>G
Published as -
ISCN -
DB-ID ABCA12_000089
Variant remarks 5 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs11890512
Origin Germline
Segregation -
Frequency 5/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04853 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     
ABCA12 NM_173076.2 -/. - c.709A>C r.(?) p.(Asn237His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305916 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq