ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3
Germline
Classification
(1)
Likely benign
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 | |||
AKR7A2 | - | - |
GRCh38 GRCh37 |
24 | 47 | |
AKR7A3 | - | - |
GRCh38 GRCh37 |
37 | 60 | |
AKR7L | - | - |
GRCh38 GRCh37 |
- | 23 | |
CAPZB | - | - |
GRCh38 GRCh37 |
7 | 33 | |
EMC1 | - | - |
GRCh38 GRCh37 |
256 | 1173 | |
EMC1-AS1 | - | - | - | GRCh38 | - | 899 |
HTR6 | - | - |
GRCh38 GRCh37 |
36 | 60 | |
LOC100506730 | - | - | - | GRCh38 | - | 7 |
LOC120893117 | - | - | - | GRCh38 | - | 6 |
LOC122056778 | - | - | - | GRCh38 | - | 6 |
There are 31 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Apr 4, 2013 | RCV000141322.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024