Variant #0000001118 (NC_000006.12:g.80168978T>G, NM_183050.3:c.581T>G (BCKDHB))

Individual ID 00000221
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.80168978T>G
Published as L194R
Reference Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar
DB-ID BCKDHB_000010
dbSNP ID rs1057519998
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 2020-12-06 11:32:02 +08:00 (CST)
Date last edited 2021-08-23 15:22:02 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BCKDHB NM_183050.3 +/. 5 c.581T>G - r.(?) p.(Leu194Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000236 DNA PCR;SEQ BCKDHB 3 Nuur Athirah Binti Mohd Daud