ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q31.3(chr4:151144531-151643648)x1
Germline
Classification
(1)
Likely benign
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 | |||
FHIP1A | - | - | - |
GRCh38 GRCh37 |
104 | 132 |
FHIP1A-DT | - | - | - | GRCh38 | - | 11 |
LOC123493219 | - | - | - |
GRCh38 GRCh38 |
- | 11 |
LOC126807191 | - | - | - |
GRCh38 GRCh38 |
- | 11 |
PRSS48 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 57 |
SH3D19 | - | - |
GRCh38 GRCh38 GRCh37 |
59 | 121 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 27, 2013 | RCV000141752.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024