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Variant : CV433134 (NM_001013703.4(EIF2AK4):c.3358-13_3358-10del) Homo sapiens

Symbol: CV433134
Name: NM_001013703.4(EIF2AK4):c.3358-13_3358-10del
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV001001094]|not specified [RCV000507928]
Clinical Significance: benign
Last Evaluated: 02/07/2019
Review Status: criteria provided, single submitter
Related Genes: EIF2AK4  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001013703.3:c.3358-13_3358-10delGTTT
NM_001013703.4:c.3358-13_3358-10del
NC_000015.10:g.40007003_40007006del
NG_034053.1:g.77880_77883del
NC_000015.9:g.40299204_40299207del
NM_001013703.3:c.3358-13_3358-10delGTTT
NC_000015.9:g.40299204_40299207delGTTT
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,007,000 - 40,007,003CLINVAR
GRCh371540,299,201 - 40,299,204CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; Familial pulmonary capillary hemangiomatosis; Pulmonary venoocclusive disease 2



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13436883
Created: 2017-10-10
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.