ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q28.1(chr4:123215841-125460263)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 | |||
AFG2A | - | - |
GRCh38 GRCh37 |
762 | 792 | |
ANKRD50 | - | - |
GRCh38 GRCh37 |
70 | 97 | |
FAT4 | - | - |
GRCh38 GRCh37 |
2609 | 2637 | |
LINC01091 | - | - | - | GRCh38 | - | 7 |
LINC02516 | - | - | - | GRCh38 | - | 8 |
LOC110121129 | - | - | - | GRCh38 | - | 6 |
LOC110121150 | - | - | - | GRCh38 | - | 6 |
LOC121725186 | - | - | - | GRCh38 | - | 6 |
LOC121725187 | - | - | - | GRCh38 | - | 6 |
LOC123480925 | - | - | - | GRCh38 | - | 6 |
There are 9 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
|
Uncertain significance (1) |
|
Oct 7, 2011 | RCV000139139.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024