RGD:127237953 Rat Genome Database

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Variant: RGD:127237953 -  Homo sapiens

RGD ID: 127237953
RS ID: rs1217572149
ClinVar ID: CV1084253
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNM2  MIR6793  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 10,939,704
GRCh38 19 10,829,028
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005362.3:c.2047-8G>A
NM_004945.4:c.2047-8G>A
NM_001005360.3:c.2059-8G>A
NM_001005361.3:c.2059-8G>A
More... 		03/07/2020 intron variant 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
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_004945
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001190716
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005360
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005362
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005361
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001397239 CLINVAR
dbSNP (RS) rs1217572149 CLINVAR
MedGen C1847902 CLINVAR
NCBI Gene DNM2 CLINVAR
  MIR6793 CLINVAR
OMIM 602378 CLINVAR
  606482 CLINVAR