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Variant : CV414415 (NM_001013703.4(EIF2AK4):c.1928T>G (p.Leu643Arg)) Homo sapiens

Symbol: CV414415
Name: NM_001013703.4(EIF2AK4):c.1928T>G (p.Leu643Arg)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000488861]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NG_034053.1:g.47400T>G
NC_000015.10:g.39976523T>G
NC_000015.9:g.40268724T>G
NP_001013725.2:p.Leu643Arg
NM_001013703.4:c.1928T>G
NM_001013703.3:c.1928T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381539,976,523 - 39,976,523CLINVAR
GRCh371540,268,724 - 40,268,724CLINVAR
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: 12906161
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.