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Variant : CV414069 (NC_000002.12:g.202249539_202474756del225218) Homo sapiens

Symbol: CV414069
Name: NC_000002.12:g.202249539_202474756del225218
Condition: Primary pulmonary hypertension [RCV000488824]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: BMPR2   NOP58   SNORD11   SNORD11B   SNORD70   SNORD70B  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: literature only
HGVS Name(s): NC_000002.12:g.202249539_202474756del225218
Position
Human AssemblyChrPosition (strand)Source
GRCh382202,249,539 - 202,474,756CLINVAR
GRCh372203,114,262 - 203,339,479CLINVAR
Cytogenetic Map22q33.1CLINVAR
Trait Synonyms: PULMONARY HYPERTENSION, PRIMARY, 1
Age Of Onset: all ages
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12905078
Created: 2017-06-06
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



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