Variant #0000002613 (NC_000022.11:g.50626153C>T, NC_000022.11(NM_000487.5):c.979+1G>A (ARSA))

Individual ID 00000505
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.50626153C>T
Published as -
Reference Barry Eng et al.(2003)
DB-ID ARSA_000001
dbSNP ID rs754722529
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-04-19 10:22:57 +08:00 (CST)
Date last edited 2021-08-01 13:22:15 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
ARSA NM_000487.5 +/. - c.979+1G>A c.973+1G>A r.spl? p.? Likely Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000552 DNA SEQ ARSA 2 Nur Aisyah Athirah