ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q44(chr1:246031233-246443488)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 | |||
LOC110121251 | - | - | - | GRCh38 | - | 50 |
LOC120947224 | - | - | - | GRCh38 | - | 46 |
LOC122152356 | - | - | - | GRCh38 | - | 48 |
LOC126806083 | - | - | - | GRCh38 | - | 48 |
LOC128598893 | - | - | - | GRCh38 | - | 49 |
LOC128598894 | - | - | - | GRCh38 | - | 49 |
LOC128635606 | - | - | - | GRCh38 | - | 49 |
LOC128635607 | - | - | - | GRCh38 | - | 49 |
LOC129388803 | - | - | - | GRCh38 | - | 48 |
LOC129932926 | - | - | - | GRCh38 | - | 49 |
There are 4 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 |
---|---|---|---|---|
Likely benign (1) |
|
Sep 21, 2012 | RCV000142925.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024