Variant #0000001100 (NC_000019.10:g.41423089C>T, NM_000709.3:c.1087C>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.41423089C>T
Published as -
Reference Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar
DB-ID BCKDHA_000001
dbSNP ID rs942815730
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 15:49:34 +08:00 (CST)
Date last edited 2021-08-23 14:45:46 +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 ?/. 8 c.1087C>T - r.(?) p.(Arg363Trp) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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