ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:16203-129081)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 | |||
HBA-LCR | - | - | - | GRCh38 | - | 822 |
LOC121530606 | - | - | - | GRCh38 | - | 19 |
LOC130058083 | - | - | - | GRCh38 | - | 6 |
LOC130058084 | - | - | - | GRCh38 | - | 17 |
LOC130058085 | - | - | - | GRCh38 | - | 17 |
LOC130058086 | - | - | - | GRCh38 | - | 19 |
LOC130058087 | - | - | - | GRCh38 | - | 19 |
LOC130058088 | - | - | - | GRCh38 | - | 18 |
LOC130058089 | - | - | - | GRCh38 | - | 18 |
MIR6859-4 | - | - | - | GRCh38 | - | 3 |
There are 6 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 | RCV000140339.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023