Variant #0000001116 (NC_000006.12:g.80343784C>T, NM_183050.3:c.1159C>T (BCKDHB))

Individual ID 00000221
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.80343784C>T
Published as R387*
Reference Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar
DB-ID BCKDHB_000005 See all 2 reported entries
dbSNP ID rs751599203
Frequency 1/2
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 11:14:15 +08:00 (CST)
Date last edited 2021-08-23 15:25:53 +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 ./. 10 c.1159C>T - r.(?) p.(Arg387*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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