ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p13(chr3:70418081-71438421)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 | |||
FOXP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
804 | 880 | |
FOXP1-AS1 | - | - | - | GRCh38 | - | 8 |
LOC110120604 | - | - | - | GRCh38 | - | 8 |
LOC110120720 | - | - | - | GRCh38 | - | 8 |
LOC110120791 | - | - | - | GRCh38 | - | 7 |
LOC110120812 | - | - | - | GRCh38 | - | 8 |
LOC110120986 | - | - | - | GRCh38 | - | 9 |
LOC110120994 | - | - | - | GRCh38 | - | 9 |
LOC123002301 | - | - | - | GRCh38 | - | 7 |
LOC123002302 | - | - | - | GRCh38 | - | 7 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051037.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023