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

Variant : CV102964 (NM_001013703.4(EIF2AK4):c.3802C>T (p.Gln1268Ter)) Homo sapiens

Symbol: CV102964
Name: NM_001013703.4(EIF2AK4):c.3802C>T (p.Gln1268Ter)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000083307]
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.40016544C>T
NC_000015.9:g.40308745C>T
NM_001013703.2:c.3802C>T
NP_001013725.2:p.Gln1268Ter
NG_034053.1:g.87421C>T
NM_001013703.4:c.3802C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,016,544 - 40,016,544CLINVAR
GRCh371540,308,745 - 40,308,745CLINVAR
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: 8574280
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.