Variant #0000532850 (NC_000007.13:g.87082273T>C, ABCB4(NM_018849.2):c.523A>G)

Chromosome 7
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.87082273T>C
DNA change (hg38) g.87452957T>C
Published as ABCB4(NM_018849.2):c.523A>G (p.T175A)
ISCN -
DB-ID ABCB4_000053 See all 3 reported entries
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) 0.01155 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_018849.2 -?/. - c.523A>G r.(?) p.(Thr175Ala)