NM_001013703.4(EIF2AK4):c.4065+1G>CChinchilla Research Resource Database
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Variant : CV414424 (NM_001013703.4(EIF2AK4):c.4065+1G>C) Homo sapiens

Symbol: CV414424
Name: NM_001013703.4(EIF2AK4):c.4065+1G>C
CRRD ID: 12906132
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000488628]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: literature only
HGVS Name(s): NG_034053.1:g.88120G>C
NC_000015.10:g.40017243G>C
NC_000015.9:g.40309444G>C
NM_001013703.3:c.4065+1G>C
NM_001013703.4:c.4065+1G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,017,243 - 40,017,243CLINVAR
GRCh371540,309,444 - 40,309,444CLINVAR
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:24292273   PMID:26387786  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000488628 CLINVAR
dbSNP (RS) rs776140816 CLINVAR
MedGen C0340848 CLINVAR
NCBI Gene EIF2AK4 CLINVAR
OMIM 234810 CLINVAR
  609280 CLINVAR
SNOMED CT 234161007 CLINVAR