rs2146400177 Rat Genome Database

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Variant: rs2146400177 -  Homo sapiens

RGD ID: 151853453
RS ID: rs2146400177
ClinVar ID: CV1514640
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: NEFH  
Reference Nucleotide: -
Variant Nucleotide: AAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCC
Position
Assembly Chr Position
GRCh37 22 29,885,568
GRCh38 22 29,489,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000022.10:g.29885567_29885568insAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCC
NC_000022.10:g.29885595_29885596insTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCTGAGAAGGCCAAGTCCCCAG
NP_066554.2:p.Pro655_Glu656insValLysGluGluAlaLysSerProGluLysAlaLysSerProGluLysAlaLysSerPro
NM_021076.4:c.1966_1967insTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCTGAGAAGGCCAAGTCCCCAG
More... 		10/31/2021 inframe_insertion uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:NEFH
Accession:NM_021076
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 647
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTL
SNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRL
GAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGE
LLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITE
YRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIA
AYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKE
EEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKS
PPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKS
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 RCV001979243 CLINVAR
dbSNP (RS) rs2146400177 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NEFH CLINVAR
OMIM 162230 CLINVAR