RGD:11606723 Rat Genome Database

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Variant: RGD:11606723 -  Homo sapiens

RGD ID: 11606723
RS ID: rs182582445
ClinVar ID: CV315573
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTMR2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 95,591,684
GRCh38 11 95,858,520
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016156.5:c.570+11T>C
NM_001243571.2:c.354+11T>C
NM_201278.3:c.354+11T>C
NM_201281.3:c.354+11T>C
More... 		01/13/2018 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1; Charcot-Marie-Tooth disease, Type 4B; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 4B1; Charcot-Marie-Tooth, Type 4; CMT 4B; CMT 4B1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTMR2
Accession:NM_001243571
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427807
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427805
Location:INTRON

Gene Symbol:MTMR2
Accession:NM_201281
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427808
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427806
Location:INTRON

Gene Symbol:MTMR2
Accession:NM_016156
Location:INTRON

Gene Symbol:MTMR2
Accession:NM_201278
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625195 CLINVAR
  RCV001173031 CLINVAR
  RCV001690015 CLINVAR
  RCV001700049 CLINVAR
  RCV002056249 CLINVAR
dbSNP (RS) rs182582445 CLINVAR
MedGen C0007959 CLINVAR
  C1832399 CLINVAR
  C3661900 CLINVAR
  C4082197 CLINVAR
  CN169374 CLINVAR
NCBI Gene MTMR2 CLINVAR
OMIM 601382 CLINVAR
  603557 CLINVAR
SNOMED CT 50548001 CLINVAR
  715795005 CLINVAR