RGD:11618004 Rat Genome Database

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Variant: RGD:11618004 -  Homo sapiens

RGD ID: 11618004
RS ID: rs12461992
ClinVar ID: CV332418
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNM2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 10,941,991
GRCh38 19 10,831,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190716.2:c.*268A>T
LRG_238t1:c.*268A>T
LRG_238:g.118237A>T
NG_008792.1:g.118237A>T
More... 		06/19/2018 3 prime utr variant benign Charcot-Marie-Tooth disease dominant intermediate 1; Charcot-Marie-Tooth disease dominant intermediate I; CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B; CMT DI1; Myopathy, centronuclear, 1; Myopathy, centronuclear, 3; MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT; none provided

Variant Details
Variant Transcripts
Gene Symbol:DNM2
Accession:NM_001190716
Location:3UTRS;EXON

Gene Symbol:DNM2
Accession:NM_004945
Location:3UTRS;EXON

Gene Symbol:DNM2
Accession:NM_001005362
Location:3UTRS;EXON

Gene Symbol:DNM2
Accession:NM_001005360
Location:3UTRS;EXON

Gene Symbol:DNM2
Accession:NM_001005361
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000309506 CLINVAR
  RCV000397375 CLINVAR
  RCV001636925 CLINVAR
dbSNP (RS) rs12461992 CLINVAR
MedGen C1847902 CLINVAR
  C3661900 CLINVAR
  C4551952 CLINVAR
NCBI Gene DNM2 CLINVAR
OMIM 160150 CLINVAR
  602378 CLINVAR
  606482 CLINVAR