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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)
Evidence: research
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


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