ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q24-25.1(chr3:149137353-149419900)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 | |||
CP | - | - |
GRCh38 GRCh37 |
595 | 935 | |
HPS3 | - | - |
GRCh38 GRCh37 |
897 | 1237 | |
LOC126806839 | - | - | - | GRCh38 | - | 5 |
LOC126806840 | - | - | - | GRCh38 | - | 5 |
LOC126806841 | - | - | - | GRCh38 | - | 5 |
LOC129937738 | - | - | - | GRCh38 | - | 5 |
LOC132088874 | - | - | - | GRCh38 | - | 5 |
TM4SF1 | - | - |
GRCh38 GRCh37 |
7 | 27 | |
TM4SF1-AS1 | - | - | - | GRCh38 | - | 5 |
TM4SF18 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 31, 2015 | RCV000143309.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023