ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p32.3(chr1:53370010-54017544)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 | |||
CPT2 | - | - |
GRCh38 GRCh37 |
886 | 1013 | |
CZIB | - | - | - |
GRCh38 GRCh37 |
- | 15 |
DMRTB1 | - | - |
GRCh38 GRCh37 |
35 | 46 | |
ECHDC2 | - | - |
GRCh38 GRCh37 |
24 | 37 | |
GLIS1 | - | - |
GRCh38 GRCh37 |
62 | 77 | |
LRP8 | - | - |
GRCh38 GRCh37 |
62 | 81 | |
MAGOH | - | - |
GRCh38 GRCh37 |
2 | 14 | |
PODN | - | - |
GRCh38 GRCh37 |
49 | 60 | |
SCP2 | - | - |
GRCh38 GRCh37 |
422 | 443 | |
SLC1A7 | - | - |
GRCh38 GRCh37 |
44 | 55 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 23, 2014 | RCV000511590.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024