Variant #0000001001 (NC_000016.10:g.88837686C>A, GALNS(NM_000512.4):c.502G>T)

Individual ID 00000198
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.88837686C>A
Published as -
Reference Huey Yin Leong et al. (2019)
DB-ID GALNS_000008
dbSNP ID -
Frequency 1/34
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
GALNS NM_000512.4 +/. 5 c.502G>T - r.(?) p.(Gly168*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000213 DNA PCR;SEQ GALNS 18 Nuur Athirah Binti Mohd Daud