ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q11.22(chr20:34796981-34952986)x3
Germline
Classification
(1)
Likely 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 | |||
ACSS2 | - | - |
GRCh38 GRCh37 |
33 | 69 | |
GGT7 | - | - |
GRCh38 GRCh37 |
37 | 52 | |
GSS | - | - |
GRCh38 GRCh37 |
383 | 399 | |
LOC126863018 | - | - | - | GRCh38 | - | 20 |
LOC130065733 | - | - | - | GRCh38 | - | 5 |
LOC130065734 | - | - | - | GRCh38 | - | 5 |
LOC130065735 | - | - | - | GRCh38 | - | 6 |
LOC130065736 | - | - | - | GRCh38 | - | 5 |
LOC130065737 | - | - | - | GRCh38 | - | 5 |
LOC130065738 | - | - | - | GRCh38 | - | 5 |
There are 2 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
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138924.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024