Variant #0000001103 (NC_000019.10:g.41397941T>C, NC_000019.10(NM_000709.3):c.108+6T>C (BCKDHA))

Individual ID 00000218
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.41397941T>C
Published as -
Reference Ernie Zuraida Ali et al.(2018), dbSNP ,ClinVar
DB-ID BCKDHA_000004
dbSNP ID rs1600956430
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 2020-12-03 16:15:32 +08:00 (CST)
Date last edited 2021-08-23 14:48:54 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BCKDHA NM_000709.3 ?/. 1i c.108+6T>C - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000233 DNA PCR;SEQ BCKDHA 1 Nuur Athirah Binti Mohd Daud