Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV801508 (Single allele) Homo sapiens

Symbol: CV801508
Name: Single allele
Condition: Pulmonary arterial hypertension [RCV001004034]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABI2   BMPR2   CARF   CD28   CTLA4   CYP20A1   FAM117B   FZD7   ICA1L   ICOS   NBEAL1   NOP58   RAPH1   SUMO1   WDR12  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh372202,772,963 - 205,218,660CLINVAR
Cytogenetic Map22q33.1-33.3CLINVAR
Trait Synonyms: Pulmonary artery hypertension; Pulmonary hypertension



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 21405140
Created: 2020-03-10
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.