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Variant : CV414420 (NM_001013703.4(EIF2AK4):c.3159G>A (p.Lys1053=)) Homo sapiens

Symbol: CV414420
Name: NM_001013703.4(EIF2AK4):c.3159G>A (p.Lys1053=)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000488748]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only
HGVS Name(s): NP_001013725.2:p.Lys1053=
NM_001013703.4:c.3159G>A
NM_001013703.3:c.3159G>A
NG_034053.1:g.72101G>A
NC_000015.10:g.40001224G>A
NC_000015.9:g.40293425G>A
NP_001013725.2:p.K975_K1053del
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,001,224 - 40,001,224CLINVAR
GRCh371540,293,425 - 40,293,425CLINVAR
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: 12906150
Created: 2017-06-06
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.