rs1403224343 Rat Genome Database

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Variant: rs1403224343 -  Homo sapiens

RGD ID: 151769896
RS ID: rs1403224343
ClinVar ID: CV1451065
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFH  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 29,885,425
GRCh38 22 29,489,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_021076.4:c.1796A>C
NG_008404.1:g.14245A>C
NC_000022.11:g.29489436A>C
NC_000022.10:g.29885425A>C
More... 		11/26/2021 missense variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:NEFH
Accession:NM_021076
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 599
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTL
SNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRL
GAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGE
LLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITE
YRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIA
AYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKE
EEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKS
PPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEATSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKS
PTKEEAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPE
KAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAK
SPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEP
AVEKPKESKVEAKKEEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEE
KAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK*

Gene Symbol:NEFH
Accession:XM_011530200
Location:INTRON

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PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001929416 CLINVAR
dbSNP (RS) rs1403224343 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NEFH CLINVAR
OMIM 162230 CLINVAR