ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q34.3(chr4:177346067-177579894)x1
Germline
Classification
(1)
Benign
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 | |||
AGA | - | - |
GRCh38 GRCh37 |
515 | 615 | |
AGA-DT | - | - | - | GRCh38 | - | 49 |
LOC112939926 | - | - | - | GRCh38 | - | 33 |
LOC123493242 | - | - | - | GRCh38 | - | 33 |
LOC129993411 | - | - | - | GRCh38 | - | 33 |
LOC129993412 | - | - | - | GRCh38 | - | 33 |
LOC129993413 | - | - | - | GRCh38 | - | 34 |
NEIL3 | - | - |
GRCh38 GRCh37 |
38 | 129 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Apr 30, 2011 | RCV000140986.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023