ClinVar Genomic variation as it relates to human health
NM_002637.4(PHKA1):c.743G>A (p.Arg248His)
Germline
Classification
(3)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | |||
PHKA1 | - | - |
GRCh38 GRCh37 |
512 | 666 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 26, 2023 | RCV003068909.2 | |
Uncertain significance (1) |
|
Apr 26, 2023 | RCV003294447.1 | |
Uncertain significance (1) |
|
Mar 27, 2023 | RCV003332403.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024