RGD:13535777 Rat Genome Database

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Variant: RGD:13535777 -  Homo sapiens

RGD ID: 13535777
RS ID: rs377150057
ClinVar ID: CV507472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNM2  MIR6793  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 10,939,707
GRCh38 19 10,829,031
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005360.2:c.2059-5C>T
LRG_238t1:c.2059-5C>T
LRG_238:g.115953C>T
NM_001005362.3:c.2047-5C>T
More... 		06/03/2021 intron variant benign|likely benign Charcot-Marie-Tooth disease dominant intermediate 1; Charcot-Marie-Tooth disease dominant intermediate I; CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B; CMT DI1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MIR6793
Accession:NR_106851
Location:EXON;NON-CODING

Gene Symbol:DNM2
Accession:NM_001190716
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005360
Location:INTRON

Gene Symbol:DNM2
Accession:NM_004945
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005361
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005362
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000641117 CLINVAR
  RCV001697543 CLINVAR
  RCV002420607 CLINVAR
dbSNP (RS) rs377150057 CLINVAR
MedGen C0950123 CLINVAR
  C1847902 CLINVAR
  C3661900 CLINVAR
NCBI Gene DNM2 CLINVAR
  MIR6793 CLINVAR
OMIM 602378 CLINVAR
  606482 CLINVAR