RGD:28872910 Rat Genome Database

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Variant: RGD:28872910 -  Homo sapiens

RGD ID: 28872910
RS ID: rs367551573
ClinVar ID: CV872352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYNC1H1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 102,483,853
GRCh38 14 102,017,516
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.102017516C>T
NM_001376.5:c.8177+12C>T
NG_008777.1:g.57989C>T
NC_000014.8:g.102483853C>T
More... 		09/03/2021 intron variant conflicting interpretations of pathogenicity|uncertain significance CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O; Charcot-Marie-Tooth disease, axonal, type 20; Charcot-Marie-Tooth Neuropathy Type 2O; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O; Spinocerebellar Ataxia, Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DYNC1H1
Accession:NM_001376
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001109124 CLINVAR
  RCV001114753 CLINVAR
dbSNP (RS) rs367551573 CLINVAR
MedGen C3280220 CLINVAR
  C4087347 CLINVAR
NCBI Gene DYNC1H1 CLINVAR
OMIM 600112 CLINVAR
  614228 CLINVAR