RGD:15099801 Rat Genome Database

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Variant: RGD:15099801 -  Homo sapiens

RGD ID: 15099801
RS ID: rs1382280530
ClinVar ID: CV683123
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYNC1H1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 102,476,609
GRCh38 14 102,010,272
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001376.5:c.6222-4C>T
NG_008777.1:g.50745C>T
NC_000014.9:g.102010272C>T
NC_000014.8:g.102476609C>T
More... 		08/14/2019 intron variant uncertain significance Charcot-Marie-Tooth Neuropathy
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000856946 CLINVAR
dbSNP (RS) rs1382280530 CLINVAR
MedGen C0007959 CLINVAR
NCBI Gene DYNC1H1 CLINVAR
OMIM 600112 CLINVAR
SNOMED CT 50548001 CLINVAR