RGD:155978226 Rat Genome Database

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Variant: RGD:155978226 -  Homo sapiens

RGD ID: 155978226
ClinVar ID: CV2321388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 7,350,447
GRCh38 17 7,447,128
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.439T>G
NG_008026.1:g.7042T>G
NC_000017.11:g.7447128T>G
NC_000017.10:g.7350447T>G
More... 		12/07/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNB1
Accession:NM_000747
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLD
LEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIDRSSCSIQVTYFPF
DWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLI
IRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVT
FSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFL
FPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTS
VGTLVIFLDATYHLPPPDPFP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002907546 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CHRNB1 CLINVAR
OMIM 100710 CLINVAR