RGD:8691955 Rat Genome Database

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Variant: RGD:8691955 -  Homo sapiens

RGD ID: 8691955
RS ID: rs77262016
ClinVar ID: CV141921
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFN2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 12,069,798
GRCh38 1 12,009,741
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_255t1:c.2204+15T>C
LRG_255:g.34561T>C
NG_007945.1:g.34561T>C
NC_000001.11:g.12009741T>C
More... 		06/14/2016 intron variant benign|likely benign AllHighlyPenetrant; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth, Type 2; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFN2
Accession:XM_005263543
Location:INTRON

Gene Symbol:MFN2
Accession:XM_047436149
Location:INTRON

Gene Symbol:MFN2
Accession:XM_005263548
Location:INTRON

Gene Symbol:MFN2
Accession:XM_047436156
Location:INTRON

Gene Symbol:MFN2
Accession:NM_001127660
Location:INTRON

Gene Symbol:MFN2
Accession:NM_014874
Location:INTRON

Gene Symbol:MFN2
Accession:XM_005263545
Location:INTRON

Gene Symbol:MFN2
Accession:XM_047436154
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000126755 CLINVAR
  RCV000299453 CLINVAR
  RCV000340301 CLINVAR
  RCV001173009 CLINVAR
dbSNP (RS) rs77262016 CLINVAR
MedGen C0007959 CLINVAR
  C0270914 CLINVAR
  C0393807 CLINVAR
  CN169374 CLINVAR
NCBI Gene MFN2 CLINVAR
OMIM 601152 CLINVAR
  608507 CLINVAR
SNOMED CT 128203003 CLINVAR
  50548001 CLINVAR