RGD:11599371 Rat Genome Database

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Variant: RGD:11599371 -  Homo sapiens

RGD ID: 11599371
RS ID: rs147982779
ClinVar ID: CV315529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTMR2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 95,567,365
GRCh38 11 95,834,201
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_257t1:c.*1089C>G
LRG_257:g.95007C>G
NG_008333.1:g.95007C>G
NC_000011.10:g.95834201G>C
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance 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 Type 4B1; CMT 4B; CMT 4B1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTMR2
Accession:NM_001243571
Location:3UTRS;EXON

Gene Symbol:MTMR2
Accession:XM_047427807
Location:3UTRS;EXON

Gene Symbol:MTMR2
Accession:NM_201281
Location:3UTRS;EXON

Gene Symbol:MTMR2
Accession:XM_047427805
Location:3UTRS;EXON

Gene Symbol:MTMR2
Accession:NM_201278
Location:3UTRS;EXON

Gene Symbol:MTMR2
Accession:NM_016156
Location:3UTRS;EXON

Gene Symbol:MTMR2
Accession:XM_047427806
Location:3UTRS;EXON

Gene Symbol:MTMR2
Accession:XM_047427808
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000264877 CLINVAR
dbSNP (RS) rs147982779 CLINVAR
MedGen C1832399 CLINVAR
NCBI Gene MTMR2 CLINVAR
OMIM 601382 CLINVAR
  603557 CLINVAR