Variant #0000650207 (NC_000002.11:g.169869901A>G, ABCB11(NM_003742.2):c.270T>C)

Individual ID 00292350
Chromosome 2
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.169869901A>G
DNA change (hg38) g.169013391A>G
Published as -
ISCN -
DB-ID ABCB11_000035 See all 4 reported entries
Variant remarks 217 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs4148777
Origin Germline
Segregation -
Frequency 217/2791 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04507 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     
ABCB11 NM_003742.2 -?/. - c.270T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000293518 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq