ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.2(chr12:11047687-11751920)x4
Germline
Classification
(1)
Uncertain significance
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 | |||
PRB1 | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 87 | |
PRB2 | - | - |
GRCh38 GRCh38 GRCh37 |
53 | 94 | |
PRB3 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 73 | |
PRB4 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 74 | |
PRH2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 51 | |
TAS2R13 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 59 | |
TAS2R14 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 60 | |
TAS2R19 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 38 | |
TAS2R20 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 65 | |
TAS2R30 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 59 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 16, 2014 | RCV000510534.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024