ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q44(chr1:247930527-248622261)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 | |||
LOC126806088 | - | - | - | GRCh38 | - | 45 |
LOC129388812 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 43 |
LOC129388813 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 42 |
OR14C36 | - | - | - |
GRCh38 GRCh37 |
12 | 100 |
OR2AJ1 | - | - | - | GRCh38 | - | 46 |
OR2AK2 | - | - | - |
GRCh38 GRCh37 |
- | 125 |
OR2G6 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
31 | 114 |
OR2L13 | - | - | - |
GRCh38 GRCh37 |
30 | 223 |
OR2L2 | - | - | - |
GRCh38 GRCh37 |
- | 121 |
OR2L3 | - | - | - |
GRCh38 GRCh37 |
- | 111 |
There are 19 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) |
|
Feb 4, 2013 | RCV000141453.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024