ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.2-13.3(chr4:70012338-71167321)x3
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 | |||
HTN3 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
5 | 36 | |
CSN1S1 | - | - |
GRCh38 GRCh37 |
14 | 45 | |
CSN2 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 54 | |
CSN3 | - | - |
GRCh38 GRCh37 |
14 | 44 | |
FDCSP | - | - |
GRCh38 GRCh37 |
8 | 38 | |
HTN1 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 36 | |
ODAM | - | - |
GRCh38 GRCh37 |
17 | 48 | |
PRR27 | - | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 52 |
STATH | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 35 | |
SULT1B1 | - | - |
GRCh38 GRCh37 |
17 | 50 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 17, 2017 | RCV000682416.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022