ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q21.3(chr21:26908459-27358327)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
APP | No evidence available | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
460 | 571 | |
ATP5PF | - | - |
GRCh38 GRCh37 |
9 | 77 | |
GABPA | - | - |
GRCh38 GRCh37 |
21 | 90 | |
JAM2 | - | - |
GRCh38 GRCh37 |
50 | 118 | |
MIR155 | - | - |
GRCh38 GRCh37 |
- | 65 | |
MRPL39 | - | - |
GRCh38 GRCh37 |
24 | 89 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 11, 2018 | RCV000848217.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022