Variant #0000259602 (NC_000007.13:g.87031444C>A, ABCB4(NM_018849.2):c.3829G>T)

Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.87031444C>A
DNA change (hg38) g.87402128C>A
Published as ABCB4(NM_018849.3):c.3829G>T (p.V1277F)
ISCN -
DB-ID ABCB4_000005
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) 0 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_018849.2 ?/. - c.3829G>T r.(?) p.(Val1277Phe)
CROT NM_021151.3 ?/. - c.*3484C>A r.(=) p.(=)