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Variant : CV102967 (NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln)) Homo sapiens

Symbol: CV102967
Name: NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000083310]
Clinical Significance: pathogenic
Last Evaluated: 03/13/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NC_000015.10:g.39973685G>A
NC_000015.9:g.40265886G>A
NM_001013703.2:c.1754G>A
NP_001013725.2:p.Arg585Gln
NG_034053.1:g.44562G>A
NM_001013703.4:c.1754G>A
Q9P2K8:p.Arg585Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381539,973,685 - 39,973,685CLINVAR
GRCh371540,265,886 - 40,265,886CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Familial pulmonary capillary hemangiomatosis; PULMONARY VENOOCCLUSIVE DISEASE 2
Age Of Onset: all ages|variable



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8574283
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.