RGD:8566259 Rat Genome Database

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Variant: RGD:8566259 -  Homo sapiens

RGD ID: 8566259
RS ID: rs74315291
ClinVar ID: CV32534
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 154,544,158
GRCh38 1 154,571,682
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008027.1:g.8902G>C
NC_000001.11:g.154571682G>C
NC_000001.10:g.154544158G>C
NP_000739.1:p.Val287Leu
More... 		01/08/2013 missense|missense variant pathogenic adolescent|childhood <1 / 1 000 000 Epilepsy, nocturnal frontal lobe, type 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNB2
Accession:NM_000748
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLIRPATNGSELVTVQLMVSLAQLISVHEREQIMTTN
VWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLYNNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVK
HFPFDQQNCTMKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTIN
LIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKILPPTSLDVPLVGKYLMFTMVLVTFSIVTSVCVLN
VHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQRLRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLA
GAFGAEPAPVAGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQ
PLFQNYTTTTFLHSDHSAPSSK*

Gene Symbol:CHRNB2
Accession:XM_017000180
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTINLIIPCVLITS
LAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKILPPTSLDVPLVGKYLMFTMVLVTFSIVTSVCVLNVHHRSPTTHT
MAPWVKVVFLEKLPALLFMQQPRHHCARQRLRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLAGAFGAEPAPV
AGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQPLFQNYTTTT
FLHSDHSAPSSK*

Gene Symbol:CHRNB2
Accession:XR_001736952
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11062464   PMID:11094099  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019047 CLINVAR
dbSNP (RS) rs74315291 CLINVAR
MedGen C1854335 CLINVAR
NCBI Gene CHRNB2 CLINVAR
OMIM 118507 CLINVAR
  605375 CLINVAR
OMIM Allele 118507.0001 CLINVAR