ClinVar Genomic variation as it relates to human health
NM_031857.2(PCDHA9):c.114A>G (p.Glu38=)
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 | |||
PCDHA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1019 | |
PCDHA2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 958 | |
PCDHA3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 895 | |
PCDHA4 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 824 | |
PCDHA5 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 780 | |
PCDHA6 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 719 | |
PCDHA7 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 649 | |
PCDHA8 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 595 | |
PCDHA9 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 529 | |
PCDHA@ | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1019 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 25, 2020 | RCV003929762.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024