RGD:13804446 Rat Genome Database

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Variant: RGD:13804446 -  Homo sapiens

RGD ID: 13804446
RS ID: rs1565351898
ClinVar ID: CV567585
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTMR2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 95,583,763
GRCh38 11 95,850,599
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.804+1G>C
NC_000011.10:g.95850599C>G
LRG_257:g.78609G>C
NC_000011.9:g.95583763C>G
More... 		05/17/2018 splice donor variant likely pathogenic Charcot-Marie-Tooth, Type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTMR2
Accession:NM_201281
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427807
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427805
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427806
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427808
Location:INTRON

Gene Symbol:MTMR2
Accession:NM_001243571
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:10802647   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000699617 CLINVAR
dbSNP (RS) rs1565351898 CLINVAR
MedGen C4082197 CLINVAR
NCBI Gene MTMR2 CLINVAR
OMIM 603557 CLINVAR
SNOMED CT 715795005 CLINVAR