NM_145798.3(OSBPL7):c.1078G>A (p.Asp360Asn)Rat Genome Database

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Variant : CV590604 (NM_145798.3(OSBPL7):c.1078G>A (p.Asp360Asn)) Homo sapiens

Symbol: CV590604
Name: NM_145798.3(OSBPL7):c.1078G>A (p.Asp360Asn)
RGD ID: 14691607
Condition: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000770960]
Clinical Significance: uncertain significance
Last Evaluated: 03/16/2017
Review Status: criteria provided, single submitter
Related Genes: OSBPL7  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NC_000017.11:g.47816148C>T
NC_000017.10:g.45893514C>T
NM_145798.2:c.1078G>A
NP_665741.1:p.Asp360Asn
NM_145798.3:c.1078G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381747,816,148 - 47,816,148CLINVAR
GRCh371745,893,514 - 45,893,514CLINVAR
Cytogenetic Map1717q21.32CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000770960 CLINVAR
dbSNP (RS) rs1016471339 CLINVAR
MedGen C3280660 CLINVAR
NCBI Gene OSBPL7 CLINVAR
OMIM 606735 CLINVAR
  614388 CLINVAR