RGD:34889780 Rat Genome Database

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Variant: RGD:34889780 -  Homo sapiens

RGD ID: 34889780
RS ID: rs1803010527
ClinVar ID: CV905222
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126860330  NEFL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 24,811,741
GRCh38 8 24,954,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.24954227G>A
NC_000008.10:g.24811741G>A
NM_006158.4:c.1123C>T
NP_006149.2:p.Leu375Phe
More... 		missense variant uncertain significance Charcot-Marie-Tooth Neuropathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NEFL
Accession:NM_006158
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 375
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSSSGSLMPSLENLDLSQVAAIS
NDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQAL
QGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRAAKDEVSESRRLLKAKTLEIE
ACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDFLNVKMALDIEIAAYRKLLEGEETRL
SFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001173039 CLINVAR
dbSNP (RS) rs1803010527 CLINVAR
MedGen C0007959 CLINVAR
NCBI Gene LOC126860330 CLINVAR
  NEFL CLINVAR
OMIM 162280 CLINVAR
SNOMED CT 50548001 CLINVAR