NM_001013703.4(EIF2AK4):c.3344C>T (p.Pro1115Leu)Chinchilla Research Resource Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV414422 (NM_001013703.4(EIF2AK4):c.3344C>T (p.Pro1115Leu)) Homo sapiens

Symbol: CV414422
Name: NM_001013703.4(EIF2AK4):c.3344C>T (p.Pro1115Leu)
CRRD ID: 12906137
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000488662]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NG_034053.1:g.74178C>T
NC_000015.10:g.40003301C>T
NC_000015.9:g.40295502C>T
NP_001013725.2:p.Pro1115Leu
NM_001013703.4:c.3344C>T
NM_001013703.3:c.3344C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,003,301 - 40,003,301CLINVAR
GRCh371540,295,502 - 40,295,502CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Familial pulmonary capillary hemangiomatosis; PULMONARY VENOOCCLUSIVE DISEASE 2
Age Of Onset: all ages



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25512148   PMID:26387786  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000488662 CLINVAR
dbSNP (RS) rs774906916 CLINVAR
MedGen C0340848 CLINVAR
NCBI Gene EIF2AK4 CLINVAR
OMIM 234810 CLINVAR
  609280 CLINVAR
SNOMED CT 234161007 CLINVAR