RGD:28890865 Rat Genome Database

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Variant: RGD:28890865 -  Homo sapiens

RGD ID: 28890865
RS ID: rs56333319
ClinVar ID: CV862141
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 12,072,656
GRCh38 1 12,012,599
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_255t1:c.*1034C>T
NM_014874.4:c.*1034C>T
LRG_255:g.37419C>T
NG_007945.1:g.37419C>T
More... 		01/13/2018 3 prime utr variant benign CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; 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_047436154
Location:3UTRS;EXON

Gene Symbol:MFN2
Accession:XM_005263545
Location:3UTRS;EXON

Gene Symbol:MFN2
Accession:XM_005263548
Location:3UTRS;EXON

Gene Symbol:MFN2
Accession:XM_005263543
Location:3UTRS;EXON

Gene Symbol:MFN2
Accession:XM_047436156
Location:3UTRS;EXON

Gene Symbol:MFN2
Accession:NM_001127660
Location:3UTRS;EXON

Gene Symbol:MFN2
Accession:NM_014874
Location:3UTRS;EXON

Gene Symbol:MFN2
Accession:XM_047436149
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001099959 CLINVAR
  RCV001099960 CLINVAR
dbSNP (RS) rs56333319 CLINVAR
MedGen C0270914 CLINVAR
  C0393807 CLINVAR
NCBI Gene MFN2 CLINVAR
OMIM 601152 CLINVAR
  608507 CLINVAR
SNOMED CT 128203003 CLINVAR