Variant #0000873899 (NC_000005.9:g.78135241C>T, NM_000046.3:c.1151G>A (ARSB))

Individual ID 00414704
Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.78135241C>T
DNA change (hg38) g.78839418C>T
Published as ARSB 5:78170997 (hg18) het CM003999 9.6%
ISCN -
DB-ID ARSB_000001 See all 11 reported entries
Variant remarks non-causative, heterozygous
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04282 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-02 11:28:48 +02:00 (CEST)
Date last edited 2022-08-02 11:29:17 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARSB NM_000046.3 -/. - c.1151G>A r.(?) p.(Ser384Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415985 DNA;RNA SEQ-NG blood - GALT 14 LOVD


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