RGD:405005158 Rat Genome Database

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Variant: RGD:405005158 -  Homo sapiens

RGD ID: 405005158
ClinVar ID: CV2889454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 24,810,973
GRCh38 8 24,953,460
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006158.5:c.1489+16A>T
LRG_259:g.8158A>T
NG_008492.1:g.8158A>T
NC_000008.11:g.24953460T>A
More... 		11/05/2023 intron variant likely benign Charcot-Marie-Tooth disease, axonal, Type 2E; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E; CMT 2E
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NEFL
Accession:NM_006158
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003514258 CLINVAR
MedGen C1843225 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
  607684 CLINVAR