Variant #0000653275 (NC_000007.13:g.87179809C>T, ABCB1(NM_000927.4):c.1199G>A)

Individual ID 00295418
Chromosome 7
Allele Parent #1
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.87179809C>T
DNA change (hg38) g.87550493C>T
Published as -
ISCN -
DB-ID ABCB1_000012
Variant remarks 53 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs2229109
Origin Germline
Segregation -
Frequency 53/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02755 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     
ABCB1 NM_000927.4 -/. - c.1199G>A r.(?) p.(Ser400Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296586 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq