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Variant : CV801148 (NM_001013703.4(EIF2AK4):c.3055_3064del (p.Leu1019fs)) Homo sapiens

Symbol: CV801148
Name: NM_001013703.4(EIF2AK4):c.3055_3064del (p.Leu1019fs)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV001003768]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NP_001013725.2:p.Leu1019fs
NM_001013703.4:c.3055_3064del
NG_034053.1:g.71997_72006del
NC_000015.10:g.40001120_40001129del
NC_000015.9:g.40293321_40293330del
NM_001013703.2:c.3055_3064delCTGACCAACG
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,001,117 - 40,001,126CLINVAR
GRCh371540,293,318 - 40,293,327CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Familial pulmonary capillary hemangiomatosis; Pulmonary venoocclusive disease 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 21404815
Created: 2020-03-10
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.