Variant #0000000945 (NC_000019.10:g.12893530C>T, NM_000159.3:c.382C>T (GCDH))

Individual ID 00000191
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.12893530C>T
Published as -
Reference Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar
DB-ID GCDH_000007
dbSNP ID rs752334462
Frequency 1/8
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 2020-11-26 10:19:41 +08:00 (CST)
Date last edited 2021-08-23 15:30:27 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
GCDH NM_000159.3 +/. - c.382C>T - r.(?) p.(Arg128*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000206 DNA PCR;SEQ GCDH 7 Nuur Athirah Binti Mohd Daud