rs1803033172 Rat Genome Database

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Variant: rs1803033172 -  Homo sapiens

RGD ID: 38459762
RS ID: rs1803033172
ClinVar ID: CV919147
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: NEFL  
Reference Nucleotide: GTC
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 8 24,813,002 - 24,813,005
GRCh38 8 24,955,488 - 24,955,491
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_259t1:c.1027_1029del
NM_006158.5:c.1027_1029del
LRG_259:g.6129_6131del
NM_006158.4:c.1027_1029delGAC
More... 		04/03/2019 inframe_deletion uncertain significance 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)
CV919147HumanCharcot-Marie-Tooth disease type 1F  IAGP 8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth disease more ...ClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001196092 CLINVAR
dbSNP (RS) rs1803033172 CLINVAR
MedGen C1843164 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
  607734 CLINVAR