RGD:12846740 Rat Genome Database

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Variant: RGD:12846740 -  Homo sapiens

RGD ID: 12846740
RS ID: rs374377836
ClinVar ID: CV379180
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNM2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 10,886,599
GRCh38 19 10,775,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008792.1:g.62845G>T
NC_000019.10:g.10775923G>T
NC_000019.9:g.10886599G>T
LRG_238:g.62845G>T
More... 		10/08/2021 intron variant benign|likely benign AllHighlyPenetrant; Charcot-Marie-Tooth disease dominant intermediate 1; Charcot-Marie-Tooth disease dominant intermediate I; CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B; CMT DI1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNM2
Accession:NM_001190716
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005362
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005361
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005360
Location:INTRON

Gene Symbol:DNM2
Accession:NM_004945
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000442208 CLINVAR
  RCV002062797 CLINVAR
dbSNP (RS) rs374377836 CLINVAR
MedGen C1847902 CLINVAR
  CN169374 CLINVAR
NCBI Gene DNM2 CLINVAR
OMIM 602378 CLINVAR
  606482 CLINVAR