Variant #0000606327 (NC_000002.11:g.169847317A>G, ABCB11(NM_003742.2):c.902T>C)

Chromosome 2
Allele Unknown
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.169847317A>G
DNA change (hg38) g.168990807A>G
Published as ABCB11(NM_003742.2):c.902T>C (p.(Val301Ala))
ISCN -
DB-ID ABCB11_000053
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB11 NM_003742.2 -?/. - c.902T>C r.(?) p.(Val301Ala)