ClinVar Genomic variation as it relates to human health
NM_015158.5(KANK1):c.3507C>T (p.Ser1169=)
Germline
Classification
(1)
Likely 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 | |||
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
821 | 1164 | |
LOC126860554 | - | - | - | GRCh38 | - | 147 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
KANK1-related disorder
|
Likely benign (1) |
|
Dec 19, 2022 | RCV004544113.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024