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Variant : CV799794 (NM_001013703.4(EIF2AK4):c.3129C>T (p.Ile1043=)) Homo sapiens

Symbol: CV799794
Name: NM_001013703.4(EIF2AK4):c.3129C>T (p.Ile1043=)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV001001748]
Clinical Significance: likely benign
Last Evaluated: 03/14/2019
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): NP_001013725.2:p.Ile1043=
NC_000015.9:g.40293395C>T
NC_000015.10:g.40001194C>T
NM_001013703.4:c.3129C>T
NG_034053.1:g.72071C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,001,194 - 40,001,194CLINVAR
GRCh371540,293,395 - 40,293,395CLINVAR
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: 21406023
Created: 2020-03-10
Species: Homo sapiens
Last Modified: 2020-11-24
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.