ClinVar Genomic variation as it relates to human health
NM_031857.2(PCDHA9):c.1427C>T (p.Thr476Met)
Germline
Classification
(1)
Uncertain significance
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 |
- | 1149 | |
PCDHA2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1083 | |
PCDHA3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1012 | |
PCDHA4 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 934 | |
PCDHA5 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 880 | |
PCDHA6 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 814 | |
PCDHA7 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 736 | |
PCDHA8 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 674 | |
PCDHA9 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 595 | |
PCDHA@ | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1149 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 1, 2024 | RCV004653143.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024