ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q26.3(chr15:101240570-101468912)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 | |||
CHSY1 | - | - |
GRCh38 GRCh37 |
190 | 332 | |
LOC100507472 | - | - | - | GRCh38 | - | 33 |
LOC121847966 | - | - | - | GRCh38 | - | 32 |
LOC125146370 | - | - | - | GRCh38 | - | 34 |
LOC130058068 | - | - | - | GRCh38 | - | 80 |
LOC130058069 | - | - | - | GRCh38 | - | 36 |
LOC130058070 | - | - | - | GRCh38 | - | 34 |
LOC130058071 | - | - | - | GRCh38 | - | 34 |
LOC130058072 | - | - | - | GRCh38 | - | 39 |
LOC130058073 | - | - | - | GRCh38 | - | 33 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (NCBI36 , GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Nov 30, 2010 | RCV000134435.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023