ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.32(chr1:3712088-4027367)x4
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 | |||
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 159 | |
C1orf174 | - | - | - |
GRCh38 GRCh37 |
5 | 102 |
CCDC27 | - | - | - |
GRCh38 GRCh37 |
56 | 154 |
CEP104 | - | - |
GRCh38 GRCh37 |
398 | 553 | |
DFFB | - | - |
GRCh38 GRCh37 |
14 | 112 | |
LINC01134 | - | - | - | GRCh38 | - | 43 |
LINC01345 | - | - | - | GRCh38 | - | 42 |
LINC01346 | - | - | - | GRCh38 | - | 42 |
LINC02780 | - | - | - | GRCh38 | - | 42 |
LOC112577581 | - | - | - | GRCh38 | - | 44 |
There are 19 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) |
|
Oct 22, 2013 | RCV000133657.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024