Variant #0000515896 (NC_000002.11:g.44065782T>C, ABCG8(NM_022437.2):c.-411T>C)

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.44065782T>C
DNA change (hg38) g.43838643T>C
Published as ABCG5(NM_022436.2):c.37A>G (p.M13V)
ISCN -
DB-ID ABCG5_000118
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) 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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG5 NM_022436.2 -?/. - c.37A>G r.(?) p.(Met13Val)
ABCG8 NM_022437.2 -?/. - c.-411T>C r.(?) p.(=)