ClinVar Genomic variation as it relates to human health
NM_001211.6(BUB1B):c.3119A>G (p.Lys1040Arg)
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 | |||
BUB1B | - | - |
GRCh38 GRCh37 |
1543 | 1831 | |
BUB1B-PAK6 | - | - | - | GRCh38 | - | 305 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 1, 2022 | RCV003154677.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024