ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p11.2(chr2:86285942-86506131)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 | |||
IMMT | - | - |
GRCh38 GRCh37 |
42 | 80 | |
MRPL35 | - | - |
GRCh38 GRCh37 |
9 | 46 | |
POLR1A | - | - |
GRCh38 GRCh37 |
737 | 870 | |
PTCD3 | - | - |
GRCh38 GRCh37 |
60 | 102 | |
REEP1 | - | - |
GRCh38 GRCh37 |
417 | 454 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 22, 2014 | RCV000511237.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024