RGD:11610089 Rat Genome Database

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Variant: RGD:11610089 -  Homo sapiens

RGD ID: 11610089
RS ID: rs8077
ClinVar ID: CV304957
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 24,808,680
GRCh38 8 24,951,167
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_259t1:c.*1643G>A
LRG_259:g.10451G>A
NG_008492.1:g.10451G>A
NC_000008.11:g.24951167C>T
More...
06/14/2016 3 prime utr variant likely benign Charcot-Marie-Tooth Neuropathy Type 1; Charcot-Marie-Tooth, Type 1; Hereditary Motor and Sensory Neuropathy 1
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 RCV000376650 CLINVAR
dbSNP (RS) rs8077 CLINVAR
MedGen C0751036 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
SNOMED CT 398040009 CLINVAR