NM_001013703.4(EIF2AK4):c.4174-17G>TChinchilla Research Resource Database
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Variant : CV373397 (NM_001013703.4(EIF2AK4):c.4174-17G>T) Homo sapiens

Symbol: CV373397
Name: NM_001013703.4(EIF2AK4):c.4174-17G>T
CRRD ID: 12844607
Condition: Pulmonary venoocclusive disease 2, autosomal recessive [RCV000999787]|not specified [RCV000438293]
Clinical Significance: benign
Last Evaluated: 08/24/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: EIF2AK4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_034053.1:g.91759G>T
NC_000015.10:g.40020882G>T
NC_000015.9:g.40313083G>T
NM_001013703.4:c.4174-17G>T
NM_001013703.3:c.4174-17G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381540,020,882 - 40,020,882CLINVAR
GRCh371540,313,083 - 40,313,083CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; Familial pulmonary capillary hemangiomatosis; Pulmonary venoocclusive disease 2



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000438293 CLINVAR
  RCV000999787 CLINVAR
dbSNP (RS) rs12916520 CLINVAR
MedGen C0340848 CLINVAR
  CN169374 CLINVAR
NCBI Gene EIF2AK4 CLINVAR
OMIM 234810 CLINVAR
  609280 CLINVAR
SNOMED CT 234161007 CLINVAR