ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p11.2-11.12(chr11:48116066-49170890)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 | |||
FOLH1 | - | - |
GRCh38 GRCh37 |
37 | 48 | |
OR4A47 | - | - | - |
GRCh38 GRCh37 |
19 | 50 |
OR4B1 | - | - | - |
GRCh38 GRCh37 |
25 | 55 |
OR4C3 | - | - | - |
GRCh38 GRCh37 |
1 | 33 |
OR4S1 | - | - | - |
GRCh38 GRCh37 |
30 | 62 |
OR4X1 | - | - | - |
GRCh38 GRCh37 |
22 | 54 |
OR4X2 | - | - | - |
GRCh38 GRCh37 |
35 | 67 |
PTPRJ | - | - |
GRCh38 GRCh37 |
110 | 144 | |
TRIM49B | - | - | - |
GRCh38 GRCh37 |
38 | 50 |
TRIM64C | - | - | - |
GRCh38 GRCh37 |
40 | 53 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 20, 2017 | RCV000683353.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022