ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q24(chr3:144319831-146552546)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
LNCSRLR | - | - | - | GRCh38 | - | 7 |
LOC123192011 | - | - | - | GRCh38 | - | 8 |
LOC126806833 | - | - | - | GRCh38 | - | 9 |
LOC126806834 | - | - | - | GRCh38 | - | 8 |
LOC126806835 | - | - | - | GRCh38 | - | 8 |
LOC126806836 | - | - | - | GRCh38 | - | 4 |
LOC129389144 | - | - | - | GRCh38 | - | 30 |
LOC129937728 | - | - | - | GRCh38 | - | 9 |
LOC129937729 | - | - | - | GRCh38 | - | 9 |
LOC129937730 | - | - | - | GRCh38 | - | 9 |
There are 8 more genes 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051576.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023