ClinVar Genomic variation as it relates to human health
NM_000476.3(AK1):c.408C>T (p.Ser136=)
Germline
Classification
(1)
Likely benign
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 | |||
AK1 | - | - |
GRCh38 GRCh37 |
- | 103 | |
ST6GALNAC4-ST6GALNAC6-AK1 | - | - | - | GRCh38 | - | 133 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 7, 2023 | RCV003736054.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024