ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q23.1-23.2(chr14:61701451-62960957)
Germline
Classification
(1)
not provided
no classification 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 | |||
HIF1A | - | - |
GRCh38 GRCh37 |
1 | 65 | |
HIF1A-AS2 | - | - |
GRCh38 GRCh37 |
- | 19 | |
PRKCH | - | - |
GRCh38 GRCh37 |
20 | 66 | |
SNAPC1 | - | - |
GRCh38 GRCh37 |
12 | 29 | |
SYT16 | - | - |
GRCh38 GRCh37 |
28 | 48 | |
TMEM30B | - | - |
GRCh38 GRCh37 |
- | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV001249389.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022