Variant #0000992866 (NC_000002.11:g.44065056C>A, NM_022437.2:c.-1137C>A (ABCG8))

Chromosome 2
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.44065056C>A
DNA change (hg38) -
Published as ABCG5(NM_022436.3):c.182G>T (p.R61L)
ISCN -
DB-ID ABCG5_000360
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) Retrieve
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2024-08-28 13:07:21 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG5 NM_022436.2 ?/. - c.182G>T r.(?) p.(Arg61Leu)
ABCG8 NM_022437.2 ?/. - c.-1137C>A r.(?) p.(=)


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