RGD:14699865 Rat Genome Database

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Variant: RGD:14699865 -  Homo sapiens

RGD ID: 14699865
RS ID: rs1569816606
ClinVar ID: CV625723
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFN2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 12,052,748
GRCh38 1 11,992,691
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_255t1:c.311+1G>T
NG_007945.1:g.17511G>T
NC_000001.11:g.11992691G>T
NC_000001.10:g.12052748G>T
More... 		splice donor variant uncertain significance Charcot-Marie-Tooth Neuropathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFN2
Accession:NM_001127660
Location:INTRON

Gene Symbol:MFN2
Accession:XM_005263543
Location:INTRON

Gene Symbol:MFN2
Accession:XM_047436154
Location:INTRON

Gene Symbol:MFN2
Accession:XM_047436156
Location:INTRON

Gene Symbol:MFN2
Accession:XM_005263548
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

Variant Samples
Additional References at PubMed
PMID:24803844  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000789394 CLINVAR
dbSNP (RS) rs1569816606 CLINVAR
MedGen C0007959 CLINVAR
NCBI Gene MFN2 CLINVAR
OMIM 608507 CLINVAR
SNOMED CT 50548001 CLINVAR