Variant #0000002718 (NC_000019.10:g.41414104G>T, NM_000709.3:c.431G>T (BCKDHA))

Individual ID 00000612
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.41414104G>T
Published as -
Reference Ernie Zuraida Ali et al.(2013)
DB-ID BCKDHA_000003 See all 2 reported entries
dbSNP ID rs398124652
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-05-05 09:09:36 +08:00 (CST)
Date last edited 2021-09-12 15:08:09 +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     
BCKDHA NM_000709.3 +/. 4 c.431G>T - r.(?) p.(Ser144Ile) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000678 DNA PCR;SEQ BCKDHA 1 Nur Aisyah Athirah