ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.13(chr20:47865750-48502791)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 | |||
LINC00494 | - | - | - | GRCh38 | - | 7 |
LINC01522 | - | - | - | GRCh38 | - | 7 |
LINC01523 | - | - | - | GRCh38 | - | 7 |
LOC126863043 | - | - | - | GRCh38 | - | 7 |
LOC129391187 | - | - | - | GRCh38 | - | 5 |
LOC130066032 | - | - | - | GRCh38 | - | 7 |
LOC130066033 | - | - | - | GRCh38 | - | 7 |
LOC130066034 | - | - | - | GRCh38 | - | 7 |
LOC130066035 | - | - | - | GRCh38 | - | 7 |
LOC130066036 | - | - | - | GRCh38 | - | 7 |
There are 9 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 | RCV000140108.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023