ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1
Germline
Classification
(1)
Pathogenic
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 | |||
NFIA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
300 | 338 | |
DIRAS3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 42 | |
AK4 | - | - |
GRCh38 GRCh37 |
15 | 41 | |
ALG6 | - | - |
GRCh38 GRCh37 |
770 | 804 | |
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 122 | |
ANKRD13C | - | - |
GRCh38 GRCh37 |
8 | 47 | |
ANKRD13C-DT | - | - |
GRCh38 GRCh37 |
- | 17 | |
ATG4C | - | - |
GRCh38 GRCh37 |
27 | 54 | |
C1orf141 | - | - | - |
GRCh38 GRCh37 |
1 | 27 |
C1orf87 | - | - |
GRCh38 GRCh37 |
3 | 23 |
There are 261 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Apr 23, 2013 | RCV000133710.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024