Variant #0000000998 (NC_000016.10:g.88841016T>G, NM_000512.4:c.398A>C (GALNS))

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.88841016T>G
Published as -
Reference Huey Yin Leong et al. (2019)
DB-ID GALNS_000005
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
Date created 2020-11-30 09:59:03 +08:00 (CST)
Date last edited 2020-12-14 17:07:19 +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 +/. 4 c.398A>C - r.(?) p.(Tyr133Ser) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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