ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.21(chr1:12666714-13181499)x3
Germline
Classification
(1)
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 | |||
AADACL3 | - | - | - |
GRCh38 GRCh37 |
18 | 64 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
37 | 84 |
CFAP107 | - | - | - |
GRCh38 GRCh37 |
3 | 46 |
HNRNPCL1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 59 |
HNRNPCL2 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
15 | 47 |
HNRNPCL3 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 22 |
HNRNPCL4 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 17 |
LINC01784 | - | - | - |
GRCh38 GRCh38 |
- | 23 |
LOC126805620 | - | - | - | GRCh38 | - | 22 |
LOC126805621 | - | - | - | GRCh38 | - | 22 |
There are 13 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
|
Benign (1) |
|
Mar 8, 2011 | RCV000136288.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024