Variant #0000001101 (NC_000019.10:g.41419177C>T, NM_000709.3:c.527C>T (BCKDHA))

Individual ID 00000217
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.41419177C>T
Published as -
Reference Ernie Zuraida Ali et al. (2018),dbSNP,ClinVar
DB-ID BCKDHA_000002
dbSNP ID rs201955081
Frequency 1/3
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-03 15:54:16 +08:00 (CST)
Date last edited 2021-08-23 14:44:13 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BCKDHA NM_000709.3 ?/. 5 c.527C>T - r.(?) p.(Ala176Val) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000232 DNA PCR;SEQ BCKDHA 3 Nuur Athirah Binti Mohd Daud