Variant #0000000944 (NC_000019.10:g.12899485G>A, GCDH(NM_000159.3):c.1261G>A)

Individual ID 00000191
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.12899485G>A
Published as -
Reference Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar
DB-ID GCDH_000006
dbSNP ID rs151201155
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
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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.1261G>A - r.(?) p.(Ala421Thr) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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