ClinVar Genomic variation as it relates to human health
NM_001253852.3(AP4B1):c.1871G>A (p.Arg624His)
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 | |||
AP4B1 | - | - |
GRCh38 GRCh37 |
110 | 431 | |
AP4B1-AS1 | - | - | - | GRCh38 | - | 348 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 27, 2023 | RCV004417379.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024