ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
ASPA | - | - |
GRCh38 GRCh37 |
13 | 475 | |
LOC100288728 | - | - | - |
GRCh38 GRCh37 |
- | 54 |
OR1A1 | - | - |
GRCh38 GRCh37 |
22 | 75 | |
OR1A2 | - | - |
GRCh38 GRCh37 |
24 | 77 | |
OR1D2 | - | - |
GRCh38 GRCh37 |
16 | 69 | |
OR1D5 | - | - | - |
GRCh38 GRCh37 |
26 | 78 |
OR1E1 | - | - | - |
GRCh38 GRCh37 |
15 | 67 |
OR1E2 | - | - | - |
GRCh38 GRCh37 |
18 | 70 |
OR1G1 | - | - | - |
GRCh38 GRCh37 |
13 | 62 |
OR3A1 | - | - | - |
GRCh38 GRCh37 |
- | 92 |
There are 6 more genes 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003987223.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024