ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q33.2(chr9:120938029-121183321)x1
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 | |||
C5 | - | - |
GRCh38 GRCh37 |
674 | 712 | |
C5-OT1 | - | - | - | GRCh38 | - | 21 |
CNTRL | - | - |
GRCh38 GRCh37 |
136 | 164 | |
LOC130002493 | - | - | - | GRCh38 | - | 11 |
LOC130002494 | - | - | - | GRCh38 | - | 11 |
LOC130002495 | - | - | - | GRCh38 | - | 11 |
LOC130002496 | - | - | - | GRCh38 | - | 14 |
LOC130002497 | - | - | - | GRCh38 | - | 12 |
LOC130002498 | - | - | - | GRCh38 | - | 12 |
LOC130002499 | - | - | - | GRCh38 | - | 13 |
There is 1 more gene 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 30, 2010 | RCV000134759.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024