rs370702418 Rat Genome Database

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Variant: rs370702418 -  Homo sapiens

RGD ID: 126917905
RS ID: rs370702418
ClinVar ID: CV1050634
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 7,350,415
GRCh38 17 7,447,096
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000747.3:c.407A>G
NG_008026.1:g.7010A>G
NC_000017.11:g.7447096A>G
NC_000017.10:g.7350415A>G
More... 		12/27/2023 missense variant uncertain significance Myasthenic syndrome, congenital, 2a, slow-channel
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNB1
Accession:NM_000747
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLD
LEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSGGSVRWQPPGIYRSSCSIQVTYFPF
DWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLI
IRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVT
FSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFL
FPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTS
VGTLVIFLDATYHLPPPDPFP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001372346 CLINVAR
  RCV002550154 CLINVAR
dbSNP (RS) rs370702418 CLINVAR
MedGen C0950123 CLINVAR
  C4225374 CLINVAR
NCBI Gene CHRNB1 CLINVAR
OMIM 100710 CLINVAR
  616313 CLINVAR