ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q42.2(chr1:232539261-233425535)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 | |||
MAP10 | - | - |
GRCh38 GRCh37 |
70 | 115 | |
NTPCR | - | - | - |
GRCh38 GRCh37 |
19 | 69 |
PCNX2 | - | - |
GRCh38 GRCh37 |
33 | 94 | |
SIPA1L2 | - | - |
GRCh38 GRCh37 |
133 | 174 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Jun 22, 2015 | RCV000510469.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024