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Variant : CV264568 (NM_001013703.4(EIF2AK4):c.560_564del (p.Lys187fs)) Homo sapiens

Symbol: CV264568
Name: NM_001013703.4(EIF2AK4):c.560_564del (p.Lys187fs)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000488528]|not provided [RCV000319705]
Clinical Significance: pathogenic
Last Evaluated: 01/12/2016
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|literature only
HGVS Name(s): NP_001013725.2:p.K187Rfs*9
NM_001013703.3:c.560_564delAAGAA
NP_001013725.2:p.Lys187fs
NM_001013703.4:c.560_564del
NG_034053.1:g.24827_24831del
NC_000015.10:g.39953950_39953954del
NC_000015.9:g.40246151_40246155del
Position
Human AssemblyChrPosition (strand)Source
GRCh381539,953,948 - 39,953,952CLINVAR
GRCh371540,246,149 - 40,246,153CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Familial pulmonary capillary hemangiomatosis; PULMONARY VENOOCCLUSIVE DISEASE 2
Age Of Onset: all ages



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11633188
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-11-24
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.