ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q44(chr1:248826567-248918467)x1
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 | |||
LOC115804255 | - | - | - | GRCh38 | - | 32 |
LOC115804256 | - | - | - | GRCh38 | - | 32 |
LOC122152362 | - | - | - | GRCh38 | - | 32 |
LOC129932962 | - | - | - | GRCh38 | - | 33 |
LOC129932963 | - | - | - | GRCh38 | - | 33 |
LOC129932964 | - | - | - | GRCh38 | - | 33 |
LOC129932965 | - | - | - | GRCh38 | - | 33 |
LOC129932966 | - | - | - | GRCh38 | - | 33 |
LOC129932967 | - | - | - | GRCh38 | - | 33 |
LOC129932968 | - | - | - | GRCh38 | - | 33 |
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
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000139528.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024