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

Variant : CV107272 (NM_001013703.4(EIF2AK4):c.3448C>T (p.Arg1150Ter)) Homo sapiens

Symbol: CV107272
Name: NM_001013703.4(EIF2AK4):c.3448C>T (p.Arg1150Ter)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000087757]
Clinical Significance: pathogenic
Last Evaluated: 03/13/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): NC_000015.10:g.40008067C>T
NC_000015.9:g.40300268C>T
NP_001013725.2:p.Arg1150Ter
NG_034053.1:g.78944C>T
NP_001013725.2:p.R1150*
NM_001013703.4:c.3448C>T
NM_001013703.3:c.3448C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,008,067 - 40,008,067CLINVAR
GRCh371540,300,268 - 40,300,268CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Familial pulmonary capillary hemangiomatosis; PULMONARY VENOOCCLUSIVE DISEASE 2
Age Of Onset: all ages|variable



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8574755
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE



NHLBI Logo

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