ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1
Germline
Classification
(1)
drug response
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 | |||
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3307 | 3402 | |
ATP1B2 | - | - |
GRCh38 GRCh37 |
13 | 41 | |
DNAH2 | - | - |
GRCh38 GRCh37 |
402 | 436 | |
EFNB3 | - | - |
GRCh38 GRCh37 |
17 | 47 | |
FXR2 | - | - |
GRCh38 GRCh37 |
40 | 71 | |
LOC126862483 | - | - | - | GRCh38 | - | 34 |
LOC129390831 | - | - | - | GRCh38 | - | 10 |
LOC130060165 | - | - | - | GRCh38 | - | 12 |
LOC130060166 | - | - | - | GRCh38 | - | 10 |
LOC130060167 | - | - | - | GRCh38 | - | 10 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
drug response (1) |
|
Nov 27, 2017 | RCV000626434.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023