Variant #0000001114 (NC_000006.12:g.80129217C>T, NM_183050.3:c.331C>T (BCKDHB))

Individual ID 00000220
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.80129217C>T
Published as R111*
Reference Ernie Zuraida Ali et al. (2018), ClinVar
DB-ID BCKDHB_000003 See all 2 reported entries
dbSNP ID -
Frequency 2/6
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 10:59:07 +08:00 (CST)
Date last edited 2021-08-23 15:16:16 +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 +/. 3 c.331C>T - r.(?) p.(Arg111*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000235 DNA PCR;SEQ BCKDHB 3 Nuur Athirah Binti Mohd Daud