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Variant : CV414425 (NM_001013703.4(EIF2AK4):c.4205dup (p.Ser1403fs)) Homo sapiens

Symbol: CV414425
Name: NM_001013703.4(EIF2AK4):c.4205dup (p.Ser1403fs)
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000488784]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NM_001013703.3:c.4205dupT
NG_034053.1:g.91807dup
NC_000015.10:g.40020930dup
NC_000015.9:g.40313131dup
NP_001013725.2:p.S1403Kfs*45
NM_001013703.4:c.4205dup
NP_001013725.2:p.Ser1403fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,020,929 - 40,020,930CLINVAR
GRCh371540,313,130 - 40,313,131CLINVAR
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: 12906154
Created: 2017-06-06
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.