Variant #0000001106 (NC_000006.12:g.80129217C>T, BCKDHB(NM_183050.3):c.331C>T)

Individual ID 00000219
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 1/9
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
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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     
0000000234 DNA PCR;SEQ BCKDHB 8 Nuur Athirah Binti Mohd Daud