ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.1(chr4:8162995-8481259)x1
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 | |||
ACOX3 | - | - |
GRCh38 GRCh37 |
83 | 165 | |
HTRA3 | - | - |
GRCh38 GRCh37 |
28 | 104 | |
SH3TC1 | - | - | - |
GRCh38 GRCh37 |
157 | 235 |
TRMT44 | - | - |
GRCh38 GRCh37 |
72 | 155 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 27, 2017 | RCV000847150.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022