rs1377352531 Rat Genome Database

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Variant: rs1377352531 -  Homo sapiens

RGD ID: 151814878
RS ID: rs1377352531
ClinVar ID: CV1349193
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 7,358,697
GRCh38 17 7,455,378
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.1139G>C
NG_008026.1:g.15292G>C
NC_000017.11:g.7455378G>C
NC_000017.10:g.7358697G>C
More... 		10/17/2022 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: G to A (nonsynonymous)
Amino Acid Position: 380
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLD
LEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPF
DWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLI
IRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVT
FSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPASGWGRGTDEYFIRKPPSDFL
FPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTS
VGTLVIFLDATYHLPPPDPFP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001918982 CLINVAR
dbSNP (RS) rs1377352531 CLINVAR
MedGen C4225374 CLINVAR
NCBI Gene CHRNB1 CLINVAR
OMIM 100710 CLINVAR
  616313 CLINVAR