RGD:126734264 Rat Genome Database

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Variant: RGD:126734264 -  Homo sapiens

RGD ID: 126734264
RS ID: rs1803055066
ClinVar ID: CV992726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 24,813,810
GRCh38 8 24,956,296
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.220A>T
LRG_259:g.5322A>T
NG_008492.1:g.5322A>T
NC_000008.11:g.24956296T>A
More... 		07/23/2020 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: S to C (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSSSGSLMPSLENLDLCQVAAIS
NDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQAL
QGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRAAKDEVSESRRLLKAKTLEIE
ACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRL
SFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001299391 CLINVAR
dbSNP (RS) rs1803055066 CLINVAR
MedGen C1843225 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR
  607684 CLINVAR