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Variant : CV374484 (NM_001013703.4(EIF2AK4):c.2249+7G>A) Homo sapiens

Symbol: CV374484
Name: NM_001013703.4(EIF2AK4):c.2249+7G>A
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV001001566]|not specified [RCV000431588]
Clinical Significance: benign
Last Evaluated: 08/07/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001013703.4:c.2249+7G>A
NM_001013703.3:c.2249+7G>A
NG_034053.1:g.47728G>A
NC_000015.10:g.39976851G>A
NC_000015.9:g.40269052G>A
NM_001013703.2:c.2249+7G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381539,976,851 - 39,976,851CLINVAR
GRCh371540,269,052 - 40,269,052CLINVAR
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: 12840901
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.