RGD:13626013 Rat Genome Database

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Variant: RGD:13626013 -  Homo sapiens

RGD ID: 13626013
RS ID: rs775390447
ClinVar ID: CV526559
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTMR2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 95,583,920
GRCh38 11 95,850,756
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_201278.3:c.439-7C>T
NM_201281.3:c.439-7C>T
NC_000011.10:g.95850756G>A
LRG_257t1:c.655-7C>T
More... 		05/21/2019 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_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_047427805
Location:INTRON

Gene Symbol:MTMR2
Accession:NM_201281
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427808
Location:INTRON

Gene Symbol:MTMR2
Accession:NM_016156
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000654222 CLINVAR
dbSNP (RS) rs775390447 CLINVAR
MedGen C4082197 CLINVAR
NCBI Gene MTMR2 CLINVAR
OMIM 603557 CLINVAR
SNOMED CT 715795005 CLINVAR