ClinVar Genomic variation as it relates to human health
NM_001001433.3(STX16):c.145-2060_556+343del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
STX16 | - | - |
GRCh38 GRCh37 |
4 | 225 | |
STX16-NPEPL1 | - | - | - | GRCh38 | - | 246 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 1, 2005 | RCV000006524.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2023
Allelic variant 603666.0001 describes multiple deletions in STX16 that include exon 4. NCBI staff selected the 4.4 kb variant reported in the paper by Linglart et al., 2005 (PubMed 15800843) to provide a representative HGVS expression.