RGD:14699852 Rat Genome Database

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Variant: RGD:14699852 -  Homo sapiens

RGD ID: 14699852
RS ID: rs863224068
ClinVar ID: CV624897
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFN2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 12,052,747
GRCh38 1 11,992,690
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_255t1:c.311G>A
NP_055689.1:p.Arg104Gln
NG_007945.1:g.17510G>A
NC_000001.11:g.11992690G>A
More... 		05/27/2022 missense variant likely pathogenic|uncertain significance Charcot-Marie-Tooth Neuropathy; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFN2
Accession:XM_047436156
Location:INTRON

Gene Symbol:MFN2
Accession:XM_005263543
Location:INTRON

Gene Symbol:MFN2
Accession:XM_005263548
Location:INTRON

Gene Symbol:MFN2
Accession:NM_001127660
Location:INTRON

Gene Symbol:MFN2
Accession:XM_047436149
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:24957169  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000789375 CLINVAR
  RCV001312063 CLINVAR
dbSNP (RS) rs863224068 CLINVAR
MedGen C0007959 CLINVAR
  C3661900 CLINVAR
NCBI Gene MFN2 CLINVAR
OMIM 608507 CLINVAR
SNOMED CT 50548001 CLINVAR