ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1
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 | |||
CTU2 | - | - |
GRCh38 GRCh37 |
236 | 327 | |
LOC130059740 | - | - | - | GRCh38 | - | 33 |
LOC130059741 | - | - | - | GRCh38 | - | 28 |
LOC130059742 | - | - | - | GRCh38 | - | 28 |
LOC130059743 | - | - | - | GRCh38 | - | 28 |
LOC130059744 | - | - | - | GRCh38 | - | 28 |
LOC130059745 | - | - | - | GRCh38 | - | 28 |
LOC130059746 | - | - | - | GRCh38 | - | 33 |
LOC130059747 | - | - | - | GRCh38 | - | 28 |
LOC130059748 | - | - | - | GRCh38 | - | 28 |
There are 8 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 |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Apr 30, 2011 | RCV000140351.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023