ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)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 | |||
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1095 | 1242 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
58 | 170 | |
ACTRT2 | - | - |
GRCh38 GRCh37 |
30 | 170 | |
AJAP1 | - | - |
GRCh38 GRCh37 |
34 | 113 | |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
68 | 182 | |
C1orf174 | - | - | - |
GRCh38 GRCh37 |
5 | 102 |
CCDC27 | - | - | - |
GRCh38 GRCh37 |
65 | 165 |
CEP104 | - | - |
GRCh38 GRCh37 |
407 | 564 | |
DFFB | - | - |
GRCh38 GRCh37 |
19 | 117 | |
FAAP20 | - | - |
GRCh38 GRCh37 |
10 | 156 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986795.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024