Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV799795 (NM_001013703.4(EIF2AK4):c.3160-8T>C) Homo sapiens

Symbol: CV799795
Name: NM_001013703.4(EIF2AK4):c.3160-8T>C
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV001002291]
Clinical Significance: benign
Last Evaluated: 12/18/2018
Review Status: 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.3160-8T>C
NG_034053.1:g.73582T>C
NC_000015.10:g.40002705T>C
NC_000015.9:g.40294906T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,002,705 - 40,002,705CLINVAR
GRCh371540,294,906 - 40,294,906CLINVAR
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: 21406228
Created: 2020-03-10
Species: Homo sapiens
Last Modified: 2020-11-24
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.