ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q44(chr1:247389261-248472496)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 | |||
GCSAML | - | - | - |
GRCh38 GRCh37 |
3 | 106 |
GCSAML-AS1 | - | - | - | GRCh38 | - | 35 |
LOC102724446 | - | - | - | GRCh38 | - | 74 |
LOC115804254 | - | - | - | GRCh38 | - | 46 |
LOC126806088 | - | - | - | GRCh38 | - | 45 |
LOC129388810 | - | - | - | GRCh38 | - | 36 |
LOC129388811 | - | - | - | GRCh38 | - | 46 |
LOC129388812 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 43 |
LOC129388813 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 42 |
LOC129932951 | - | - | - |
GRCh38 GRCh38 |
- | 35 |
There are 41 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) |
|
Apr 8, 2011 | RCV000137367.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024