RGD:127260197 Rat Genome Database

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Variant: RGD:127260197 -  Homo sapiens

RGD ID: 127260197
RS ID: rs541109299
ClinVar ID: CV1096944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 24,811,159
GRCh38 8 24,953,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006158.5:c.1320G>A
LRG_259:g.7973G>A
NG_008492.1:g.7973G>A
NC_000008.11:g.24953645C>T
More... 		03/23/2020 synonymous variant likely benign 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: P to P (synonymous)
Amino Acid Position: 440
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSSSGSLMPSLENLDLSQVAAIS
NDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQAL
QGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRAAKDEVSESRRLLKAKTLEIE
ACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRL
SFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001438515 CLINVAR
dbSNP (RS) rs541109299 CLINVAR
MedGen C1843225 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
  607684 CLINVAR