ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.3-21.1(chr4:75289409-75573152)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 | |||
LINC02483 | - | - | - | GRCh38 | - | 8 |
LOC123477765 | - | - | - | GRCh38 | - | 9 |
LOC126807083 | - | - | - | GRCh38 | - | 8 |
ODAPH | - | - |
GRCh38 GRCh37 |
18 | 46 | |
RCHY1 | - | - |
GRCh38 GRCh37 |
6 | 36 | |
THAP6 | - | - |
GRCh38 GRCh37 |
15 | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 22, 2010 | RCV000137143.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024