Variant #0000257068 (NC_000002.11:g.44065019G>C, ABCG8(NM_022437.2):c.-1174G>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.44065019G>C
DNA change (hg38) g.43837880G>C
Published as ABCG5(NM_022436.2):c.219C>G (p.S73=)
ISCN -
DB-ID ABCG5_000047
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) Variant not found in online data sets
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.219C>G r.(?) p.(Ser73=)
ABCG8 NM_022437.2 -/. - c.-1174G>C r.(?) p.(=)