RGD:8622558 Rat Genome Database

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Variant: RGD:8622558 -  Homo sapiens

RGD ID: 8622558
RS ID: rs59408749
ClinVar ID: CV77580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 24,813,841
GRCh38 8 24,956,327
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008492.1:g.5291G>A
NC_000008.11:g.24956327C>T
NC_000008.10:g.24813841C>T
NM_006158.3:c.189G>A
More... 		synonymous variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:NEFL
Accession:NM_006158
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSSSGSLMPSLENLDLSQVAAIS
NDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQAL
QGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRAAKDEVSESRRLLKAKTLEIE
ACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRL
SFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000057125 CLINVAR
dbSNP (RS) rs59408749 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NEFL CLINVAR
OMIM 162280 CLINVAR