Variant #0000443910 (NC_000023.10:g.7175314G>A, NM_001320752.2:c.205G>A (STS))

Individual ID 00211187
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.7175314G>A
DNA change (hg38) g.7257273G>A
Published as NM_000351.4:c.184G>A
ISCN -
DB-ID STS_000078
Variant remarks lack of STS enzymatic activity
Reference PubMed: Ohyama 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Michel van Geel
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Michel van Geel
Date created 2019-01-03 22:20:22 +01:00 (CET)
Date last edited 2023-03-16 18:52:01 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STS NM_001320752.2 +/+ - c.205G>A r.(?) p.(Gly69Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000212263 DNA SEQ - - STS 1 Michel van Geel


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