Variant #0000245997 (NC_000002.11:g.44064993A>G, ABCG8(NM_022437.2):c.-1200A>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44064993A>G
DNA change (hg38) g.43837854A>G
Published as ABCG5(NM_022436.2):c.245T>C (p.M82T)
ISCN -
DB-ID ABCG5_000045
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) 2.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG5 NM_022436.2 +?/. - c.245T>C r.(?) p.(Met82Thr)
ABCG8 NM_022437.2 +?/. - c.-1200A>G r.(?) p.(=)