ClinVar Genomic variation as it relates to human health
NM_001142416.2(AIMP1):c.-34C>T
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 | |||
AIMP1 | - | - |
GRCh38 GRCh37 |
112 | 135 | |
LOC129992924 | - | - | - | GRCh38 | - | 5 |
TBCK | - | - |
GRCh38 GRCh37 |
810 | 830 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
AIMP1-related disorder
|
Likely benign (1) |
|
Aug 9, 2019 | RCV003907073.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024