Variant #0000578719 (NC_000022.10:g.51065802C>T, NM_000487.5:c.257G>A (ARSA))

Individual ID 00248666
Chromosome 22
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.51065802C>T
DNA change (hg38) g.50627374C>T
Published as 251G>A
ISCN -
DB-ID ARSA_000094 See all 15 reported entries
Variant remarks -
Reference PubMed: Bertelli 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner Alessandra Biffi
Database submission license No license selected
Created by Alessandra Biffi
Date created 2017-05-27 13:39:12 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Protein level     
ARSA NM_000487.5 +/+? - c.257G>A r.(?) p.(Arg86Gln) 0.09



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249768 DNA SEQ leukocytes - ARSA 2 Alessandra Biffi


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