RGD:8571058 Rat Genome Database

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Variant: RGD:8571058 -  Homo sapiens

RGD ID: 8571058
RS ID: rs267607538
ClinVar ID: CV49663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 24,813,965
GRCh38 8 24,956,451
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008492.1:g.5167C>G
NC_000008.11:g.24956451G>C
NC_000008.10:g.24813965G>C
NM_006158.3:c.65C>G
More... 		10/18/2012 missense|missense variant pathogenic|not provided childhood|infancy Charcot-Marie-Tooth disease, demyelinating, type 1f; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F; CMT 1F; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NEFL
Accession:NM_006158
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFSYEPYYSTSYKRRYVETRRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSSSGSLMPSLENLDLSQVAAIS
NDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQAL
QGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRAAKDEVSESRRLLKAKTLEIE
ACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRL
SFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD*
Variant Samples
Additional References at PubMed
PMID:20301384  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000034139 CLINVAR
  RCV000057145 CLINVAR
dbSNP (RS) rs267607538 CLINVAR
MedGen C1843164 CLINVAR
  CN517202 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
  607734 CLINVAR