ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q44(chr1:248250956-248787141)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 | |||
LOC129388812 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 43 |
LOC129388813 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 42 |
LOC129932956 | - | - | - |
GRCh38 GRCh38 |
- | 34 |
LOC129932957 | - | - | - |
GRCh38 GRCh38 |
- | 34 |
LYPD8 | - | - |
GRCh38 GRCh37 |
- | 75 | |
OR14C36 | - | - | - |
GRCh38 GRCh37 |
11 | 99 |
OR14I1 | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 79 | |
OR2G6 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
26 | 109 |
OR2M7 | - | - |
GRCh38 GRCh37 |
33 | 121 | |
OR2T1 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
23 | 110 |
There are 14 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 | RCV000141214.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023