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Variant : CV107271 (NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter)) Homo sapiens

Symbol: CV107271
Name: NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000087756]
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:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): NC_000015.10:g.40016508C>T
NC_000015.9:g.40308709C>T
NP_001013725.2:p.Arg1256Ter
NG_034053.1:g.87385C>T
NM_001013703.4:c.3766C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,016,508 - 40,016,508CLINVAR
GRCh371540,308,709 - 40,308,709CLINVAR
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: 8574754
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-24
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.