RGD:14708012 Rat Genome Database

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Variant: RGD:14708012 -  Homo sapiens

RGD ID: 14708012
RS ID: rs1595629239
ClinVar ID: CV652443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYNC1H1  LOC107984661  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 102,504,949
GRCh38 14 102,038,612
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.102038612G>A
NC_000014.8:g.102504949G>A
NM_001376.4:c.11055+6G>A
NG_008777.1:g.79085G>A
More... 		09/10/2018 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

Gene Symbol:LOC107984661
Accession:XR_001750903
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000808550 CLINVAR
dbSNP (RS) rs1595629239 CLINVAR
MedGen C3280220 CLINVAR
NCBI Gene DYNC1H1 CLINVAR
OMIM 600112 CLINVAR
  614228 CLINVAR