ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ACOX1 | - | - |
GRCh38 GRCh37 |
820 | 847 | |
FBF1 | - | - |
GRCh38 GRCh37 |
18 | 43 | |
GALK1 | - | - |
GRCh38 GRCh37 |
486 | 976 | |
H3-3B | - | - |
GRCh38 GRCh37 |
25 | 43 | |
MRPL38 | - | - |
GRCh38 GRCh37 |
27 | 52 | |
TEN1 | - | - |
GRCh38 GRCh37 |
- | 25 | |
TRIM47 | - | - |
GRCh38 GRCh37 |
57 | 76 | |
TRIM65 | - | - |
GRCh38 GRCh37 |
57 | 77 | |
UNC13D | - | - |
GRCh38 GRCh37 |
1400 | 1572 | |
UNK | - | - |
GRCh38 GRCh37 |
36 | 54 |
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
|
Uncertain significance (1) |
|
Feb 24, 2015 | RCV000511796.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024