ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
59 | 88 |
EEIG2 | - | - | - |
GRCh38 GRCh37 |
11 | 30 |
FNDC7 | - | - | - |
GRCh38 GRCh37 |
42 | 64 |
GPSM2 | - | - |
GRCh38 GRCh37 |
222 | 298 | |
HENMT1 | - | - |
GRCh38 GRCh37 |
27 | 46 | |
NBPF4 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 38 | |
NBPF6 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 43 | |
PRPF38B | - | - | - |
GRCh38 GRCh37 |
24 | 43 |
STXBP3 | - | - |
GRCh38 GRCh37 |
25 | 49 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 4, 2019 | RCV001258447.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023