ClinVar Genomic variation as it relates to human health
NM_015015.3(KDM4B):c.1732G>C (p.Ala578Pro)
Germline
Classification
(2)
Likely benign
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 | |||
KDM4B | - | - |
GRCh38 GRCh37 |
184 | 207 | |
LOC130063244 | - | - | - | GRCh38 | - | 17 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 1, 2024 | RCV003421763.5 | |
KDM4B-related disorder
|
Likely benign (1) |
|
Jan 31, 2022 | RCV003908909.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024