Variant #0000002580 (NC_000002.12:g.43839108G>C, ABCG8(NM_022437.2):c.55G>C)

Individual ID 00000577
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43839108G>C
Published as -
Reference Noor Shafina Mohd Nor et al.(2019)
DB-ID ABCG8_000001
dbSNP ID rs11887534
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
ABCG8 NM_022437.2 +/. 1 c.55G>C - r.(?) p.(Asp19His) Benign/Likely benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000636 DNA SEQ-NG-I ABCG8 1 Nur Aisyah Athirah