RGD:28872286 Rat Genome Database

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Variant: RGD:28872286 -  Homo sapiens

RGD ID: 28872286
RS ID: rs1802971132
ClinVar ID: CV899365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 24,809,170
GRCh38 8 24,951,657
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_259:g.9961T>G
NG_008492.1:g.9961T>G
LRG_259t1:c.*1153T>G
NM_006158.5:c.*1153T>G
More... 		01/12/2018 3 prime utr variant 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 Transcripts
Gene Symbol:NEFL
Accession:NM_006158
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001164322 CLINVAR
dbSNP (RS) rs1802971132 CLINVAR
MedGen C1843164 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
  607734 CLINVAR