Variant #0000001009 (NC_000016.10:g.88832042C>T, NM_000512.4:c.958G>A (GALNS))

Individual ID 00000198
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.88832042C>T
Published as -
Reference Huey Yin Leong et al. (2019), dbSNP, ClinVar
DB-ID GALNS_000016
dbSNP ID rs761539025
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
Date created 2020-11-30 10:33:53 +08:00 (CST)
Date last edited 2021-08-25 09:13:00 +08:00 (CST)
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 ?/. 9 c.958G>A - r.(?) p.(Glu320Lys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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