Variant #0000257069 (NC_000002.11:g.44065003C>T, ABCG8(NM_022437.2):c.-1190C>T)

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.44065003C>T
DNA change (hg38) g.43837864C>T
Published as ABCG5(NM_022436.2):c.235G>A (p.G79R), ABCG5(NM_022436.3):c.235G>A (p.G79R)
ISCN -
DB-ID ABCG5_000046 See all 2 reported entries
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) 0.00039 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.235G>A r.(?) p.(Gly79Arg)
ABCG8 NM_022437.2 +?/. - c.-1190C>T r.(?) p.(=)