ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1
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 | |||
CTNS | - | - |
GRCh38 GRCh37 |
504 | 910 | |
SHPK | - | - |
GRCh38 GRCh37 |
153 | 270 | |
TRPV1 | - | - |
GRCh38 GRCh37 |
77 | 169 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 13, 2017 | RCV000849989.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022