Variant #0000952341 (NC_000001.10:g.231488695G>A, NM_032018.5:c.1058G>A (SPRTN))

Individual ID 00443879
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.231488695G>A
DNA change (hg38) g.231352949G>A
Published as NM_032018:c.1058G>A
ISCN -
DB-ID SPRTN_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Chatron 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-12-05 14:09:46 +01:00 (CET)
Date last edited 2023-12-05 14:13:20 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPRTN NM_032018.5 ?/. - c.1058G>A r.(?) p.(Ser353Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000445376 DNA SEQ;SEQ-NG - WES - 14 Johan den Dunnen


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