RGD:13609461 Rat Genome Database

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Variant: RGD:13609461 -  Homo sapiens

RGD ID: 13609461
RS ID: rs1045761358
ClinVar ID: CV523983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 24,811,139
GRCh38 8 24,953,625
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.10:g.24811139A>G
NG_008492.1:g.7993T>C
NC_000008.11:g.24953625A>G
NP_006149.2:p.Val447Ala
More... 		03/03/2020 missense variant uncertain significance Charcot-Marie-Tooth disease, axonal, Type 2E; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E; CMT 2E
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NEFL
Accession:NM_006158
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 447
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSSSGSLMPSLENLDLSQVAAIS
NDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQAL
QGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRAAKDEVSESRRLLKAKTLEIE
ACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRL
SFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHAQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000640662 CLINVAR
dbSNP (RS) rs1045761358 CLINVAR
MedGen C1843225 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
  607684 CLINVAR