RGD:14730007 Rat Genome Database

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Variant: RGD:14730007 -  Homo sapiens

RGD ID: 14730007
RS ID: rs6982740
ClinVar ID: CV663344
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 24,812,947
GRCh38 8 24,955,433
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008492.1:g.6185G>C
NC_000008.11:g.24955433C>G
NC_000008.10:g.24812947C>G
NM_006158.3:c.1044+39G>C
More...
06/16/2018 intron variant benign none provided

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000835480 CLINVAR
dbSNP (RS) rs6982740 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR