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Variant : CV801149 (NM_001013703.4(EIF2AK4):c.3097C>T (p.Gln1033Ter)) Homo sapiens

Symbol: CV801149
Name: NM_001013703.4(EIF2AK4):c.3097C>T (p.Gln1033Ter)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV001003769]
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: research
HGVS Name(s): NG_034053.1:g.72039C>T
NC_000015.10:g.40001162C>T
NC_000015.9:g.40293363C>T
NM_001013703.2:c.3097C>T
NP_001013725.2:p.Gln1033Ter
NM_001013703.4:c.3097C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,001,162 - 40,001,162CLINVAR
GRCh371540,293,363 - 40,293,363CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Familial pulmonary capillary hemangiomatosis; Pulmonary venoocclusive disease 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 21404817
Created: 2020-03-10
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.