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Variant : CV799793 (NM_001013703.4(EIF2AK4):c.3123T>G (p.Pro1041=)) Homo sapiens

Symbol: CV799793
Name: NM_001013703.4(EIF2AK4):c.3123T>G (p.Pro1041=)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV001000454]
Clinical Significance: likely benign
Last Evaluated: 03/20/2019
Review Status: criteria provided, single submitter
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001013703.4:c.3123T>G
NG_034053.1:g.72065T>G
NC_000015.10:g.40001188T>G
NC_000015.9:g.40293389T>G
NP_001013725.2:p.Pro1041=
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,001,188 - 40,001,188CLINVAR
GRCh371540,293,389 - 40,293,389CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Familial pulmonary capillary hemangiomatosis; Pulmonary venoocclusive disease 2



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 21405432
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.