Variant #0000001847 (NC_000009.12:g.6589250G>C, GLDC(NM_000170.2):c.1525C>G)

Individual ID 00000395
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.6589250G>C
Published as -
Reference Nor Azimah Abdul Azize et al. (2014), dbSNP, ClinVar
DB-ID GLDC_000006
dbSNP ID rs557412758
Frequency 1/3
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.0003 View details
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     
GLDC NM_000170.2 +/. 12 c.1525C>G - r.(?) p.(Pro509Ala) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000409 DNA MLPA;PCR;SEQ GLDC 5 Nuur Athirah Binti Mohd Daud