RGD:11589361 Rat Genome Database

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Variant: RGD:11589361 -  Homo sapiens

RGD ID: 11589361
RS ID: rs2180182
ClinVar ID: CV276475
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 12,040,442
GRCh38 1 11,980,385
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_255t1:c.-249T>A
LRG_255:g.5205T>A
NG_007945.1:g.5205T>A
NC_000001.11:g.11980385T>A
More... 		01/13/2018 5 prime utr variant benign|likely benign CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; Charcot-Marie-Tooth, Type 2; none provided; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000310318 CLINVAR
  RCV000392486 CLINVAR
  RCV001097792 CLINVAR
  RCV002259333 CLINVAR
dbSNP (RS) rs2180182 CLINVAR
MedGen C0027888 CLINVAR
  C0270914 CLINVAR
  C0393807 CLINVAR
  C3661900 CLINVAR
NCBI Gene MFN2 CLINVAR
OMIM 601152 CLINVAR
  608507 CLINVAR
SNOMED CT 128203003 CLINVAR