ClinVar Genomic variation as it relates to human health
NM_014851.4(KLHL21):c.590C>T (p.Ala197Val)
Germline
Classification
(1)
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 | |||
KLHL21 | - | - |
GRCh38 GRCh37 |
33 | 113 | |
LOC129929254 | - | - | - | GRCh38 | - | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
KLHL21-related disorder
|
Benign (1) |
|
Aug 26, 2019 | RCV003932195.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024