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Variant : CV374483 (NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu)) Homo sapiens

Symbol: CV374483
Name: NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000999785]|not specified [RCV000418964]
Clinical Significance: benign
Last Evaluated: 11/06/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_034053.1:g.38524A>C
NC_000015.10:g.39967647A>C
NC_000015.9:g.40259848A>C
NP_001013725.2:p.Ile441Leu
NM_001013703.2:c.1321A>C
NM_001013703.4:c.1321A>C
NM_001013703.3:c.1321A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381539,967,647 - 39,967,647CLINVAR
GRCh371540,259,848 - 40,259,848CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; Familial pulmonary capillary hemangiomatosis; Pulmonary venoocclusive disease 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12833678
Created: 2017-04-11
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.