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Variant : CV414413 (NM_001013703.4(EIF2AK4):c.745C>T (p.Arg249Ter)) Homo sapiens

Symbol: CV414413
Name: NM_001013703.4(EIF2AK4):c.745C>T (p.Arg249Ter)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000488705]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: 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): NG_034053.1:g.32662C>T
NC_000015.10:g.39961785C>T
NC_000015.9:g.40253986C>T
NP_001013725.2:p.R249*
NM_001013703.4:c.745C>T
NM_001013703.3:c.745C>T
NP_001013725.2:p.Arg249Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381539,961,785 - 39,961,785CLINVAR
GRCh371540,253,986 - 40,253,986CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Familial pulmonary capillary hemangiomatosis; PULMONARY VENOOCCLUSIVE DISEASE 2
Age Of Onset: all ages



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12906143
Created: 2017-06-06
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.