ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1
Germline
Classification
(1)
Pathogenic
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 | |||
PRSS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 793 | |
ARHGEF35 | - | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 92 |
ARHGEF35-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
CASP2 | - | - |
GRCh38 GRCh37 |
34 | 85 | |
CLCN1 | - | - |
GRCh38 GRCh37 |
1368 | 1516 | |
CTAGE15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 68 |
CTAGE4 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 82 | |
CTAGE6 | - | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 90 |
EPHA1 | - | - |
GRCh38 GRCh38 GRCh37 |
77 | 139 | |
EPHA1-AS1 | - | - | - |
GRCh38 GRCh38 |
1 | 70 |
There are 102 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050639.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024