Variant #0000001110 (NC_000006.12:g.80200993G>T, NM_183050.3:c.802G>T (BCKDHB))

Individual ID 00000219
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.80200993G>T
Published as E268*
Reference Ernie Zuraida Ali et al. (2018) ,dbSNP ,ClinVar
DB-ID BCKDHB_000007
dbSNP ID rs78340021
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
Date created 2020-12-06 10:29:28 +08:00 (CST)
Date last edited 2021-08-23 14:59:35 +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 ./. 7 c.802G>T - r.(?) p.(Glu268*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000234 DNA PCR;SEQ BCKDHB 8 Nuur Athirah Binti Mohd Daud