Variant #0000718799 (NC_000002.11:g.44071743A>G, ABCG8(NM_022437.2):c.161A>G)

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.44071743A>G
DNA change (hg38) -
Published as ABCG8(NM_022437.3):c.161A>G (p.Y54C)
ISCN -
DB-ID ABCG8_000077 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) 0.42854 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG8 NM_022437.2 -?/. - c.161A>G r.(?) p.(Tyr54Cys)