ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q43-44(chr1:243264206-243677283)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
173 | 338 | |
LOC122152351 | - | - | - |
GRCh38 GRCh38 |
- | 53 |
LOC122152352 | - | - | - |
GRCh38 GRCh38 |
- | 54 |
LOC122152353 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
LOC126806073 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
LOC126806074 | - | - | - |
GRCh38 GRCh38 |
- | 55 |
MIR4677 | - | - | - |
GRCh38 GRCh38 |
- | 53 |
SDCCAG8 | - | - |
GRCh38 GRCh38 GRCh37 |
544 | 712 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000053236.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024