RGD:13622312 Rat Genome Database

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Variant: RGD:13622312 -  Homo sapiens

RGD ID: 13622312
RS ID: rs1555411461
ClinVar ID: CV528391
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYNC1H1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 102,500,656
GRCh38 14 102,034,319
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008777.1:g.74792T>C
NC_000014.9:g.102034319T>C
NC_000014.8:g.102500656T>C
NM_001376.5:c.10627-6T>C
More... 		10/04/2017 intron variant 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
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 RCV000649561 CLINVAR
dbSNP (RS) rs1555411461 CLINVAR
MedGen C3280220 CLINVAR
NCBI Gene DYNC1H1 CLINVAR
OMIM 600112 CLINVAR
  614228 CLINVAR