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

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
Date created 2021-04-08 11:35:37 +08:00 (CST)
Date last edited 2021-08-01 14:08:18 +08:00 (CST)
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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