ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q32(chr9:114193726-114677465)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 | |||
AKNA | - | - |
GRCh38 GRCh37 |
121 | 172 | |
ATP6V1G1 | - | - |
GRCh38 GRCh37 |
7 | 46 | |
COL27A1 | - | - |
GRCh38 GRCh37 |
2068 | 2231 | |
LOC121366021 | - | - | - | GRCh38 | - | 17 |
LOC124310629 | - | - | - | GRCh38 | - | 17 |
LOC126860735 | - | - | - | GRCh38 | - | 17 |
LOC126860736 | - | - | - | GRCh38 | - | 138 |
LOC129390109 | - | - | - | GRCh38 | - | 17 |
LOC130002437 | - | - | - | GRCh38 | - | 17 |
LOC130002438 | - | - | - | GRCh38 | - | 17 |
There are 24 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Apr 30, 2011 | RCV000140795.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023