Variant #0000260448 (NC_000007.13:g.87032525G>A, ABCB4(NM_018849.2):c.3580C>T)

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.87032525G>A
DNA change (hg38) g.87403209G>A
Published as ABCB4(NM_000443.3):c.3559C>T (p.R1187*)
ISCN -
DB-ID ABCB4_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.3580C>T r.(?) p.(Arg1194Ter)
CROT NM_021151.3 +/. - c.*4565G>A r.(=) p.(=)