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Variant : CV801141 (NM_001013703.4(EIF2AK4):c.281dup (p.Asn94fs)) Homo sapiens

Symbol: CV801141
Name: NM_001013703.4(EIF2AK4):c.281dup (p.Asn94fs)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV001003761]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NG_034053.1:g.14283dup
NC_000015.10:g.39943406dup
NC_000015.9:g.40235607dup
NM_001013703.2:c.281dupA
NP_001013725.2:p.Asn94fs
NM_001013703.4:c.281dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381539,943,400 - 39,943,401CLINVAR
GRCh371540,235,601 - 40,235,602CLINVAR
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: 21404805
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.