RGD:155980767 Rat Genome Database

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Variant: RGD:155980767 -  Homo sapiens

RGD ID: 155980767
ClinVar ID: CV2078295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTMR2  
Reference Nucleotide: -
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 95,590,806
GRCh38 11 95,857,642
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001243571.2:c.355-8_355-7insG
NM_201278.3:c.355-8_355-7insG
NM_201281.3:c.355-8_355-7insG
NM_016156.6:c.571-8_571-7insG
More... 		09/07/2022 intron variant likely benign Charcot-Marie-Tooth, Type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTMR2
Accession:NM_016156
Location:INTRON

Gene Symbol:MTMR2
Accession:NM_201281
Location:INTRON

Gene Symbol:MTMR2
Accession:NM_201278
Location:INTRON

Gene Symbol:MTMR2
Accession:NM_001243571
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427806
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427807
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427808
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427805
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002863759 CLINVAR
MedGen C4082197 CLINVAR
NCBI Gene MTMR2 CLINVAR
OMIM 603557 CLINVAR
SNOMED CT 715795005 CLINVAR