rs79034217 Rat Genome Database

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Variant: rs79034217 -  Homo sapiens

RGD ID: 11603218
RS ID: rs79034217
ClinVar ID: CV304959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 24,808,979
GRCh38 8 24,951,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_259t1:c.*1344G>A
LRG_259:g.10152G>A
NG_008492.1:g.10152G>A
NC_000008.11:g.24951466C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign Charcot-Marie-Tooth disease, demyelinating, type 1f; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F; CMT 1F
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV304959HumanCharcot-Marie-Tooth disease type 1F  IAGP 8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth disease more ...ClinVar 
Gene Symbol:NEFL
Accession:NM_006158
Location:3UTRS;EXON

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Database
Acc Id
Source(s)
ClinVar RCV000297649 CLINVAR
dbSNP (RS) rs79034217 CLINVAR
MedGen C1843164 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
  607734 CLINVAR