ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q44(chr1:247962269-248260734)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 | |||
OR11L1 | - | - | - |
GRCh38 GRCh37 |
20 | 114 |
OR14A16 | - | - | - |
GRCh38 GRCh37 |
27 | 122 |
OR2AK2 | - | - | - |
GRCh38 GRCh37 |
- | 125 |
OR2L13 | - | - | - |
GRCh38 GRCh37 |
30 | 223 |
OR2L2 | - | - | - |
GRCh38 GRCh37 |
- | 121 |
OR2L3 | - | - | - |
GRCh38 GRCh37 |
- | 111 |
OR2L5 | - | - | - |
GRCh38 GRCh37 |
- | 92 |
OR2L8 | - | - | - |
GRCh38 GRCh37 |
- | 109 |
OR2T8 | - | - | - |
GRCh38 GRCh37 |
27 | 117 |
OR2W3 | - | - |
GRCh38 GRCh37 |
212 | 305 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
- | RCV000445751.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024