ClinVar Genomic variation as it relates to human health
NM_001142733.3(ASB14):c.*1149T>C
Germline
Classification
(1)
Likely 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 | |||
APPL1 | - | - |
GRCh38 GRCh37 |
129 | 167 | |
ASB14 | - | - | - |
GRCh38 GRCh37 |
32 | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
APPL1-related disorder
|
Likely benign (1) |
|
May 25, 2022 | RCV003907137.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024