Variant #0000001011 (NC_000016.10:g.88814485A>G, NM_000512.4:c.1523T>C (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.88814485A>G
Published as -
Reference Huey Yin Leong et al. (2019)dbSNP
DB-ID GALNS_000018
dbSNP ID rs1583561006
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 10:38:47 +08:00 (CST)
Date last edited 2021-09-12 09:22:34 +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 ?/. 14 c.1523T>C - r.(?) p.(Leu508Pro) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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