RGD:28872732 Rat Genome Database

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Variant: RGD:28872732 -  Homo sapiens

RGD ID: 28872732
RS ID: rs769348830
ClinVar ID: CV899379
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 24,814,287
GRCh38 8 24,956,773
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
LRG_259:g.4845C>G
NC_000008.10:g.24814287G>C
LRG_259t1:c.-258C>G
NG_008492.1:g.4845C>G
More... 		01/13/2018 uncertain significance Charcot-Marie-Tooth disease, demyelinating, type 1f; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F; CMT 1F
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001164539 CLINVAR
dbSNP (RS) rs769348830 CLINVAR
MedGen C1843164 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
  607734 CLINVAR