RGD:13531964 Rat Genome Database

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Variant: RGD:13531964 -  Homo sapiens

RGD ID: 13531964
RS ID: rs746480833
ClinVar ID: CV511175
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 154,542,012
GRCh38 1 154,569,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008027.1:g.6756C>T
NC_000001.11:g.154569536C>T
NP_000739.1:p.Arg47Cys
NM_000748.2:c.139C>T
More...
01/11/2020 missense variant likely pathogenic|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNB2
Accession:NM_000748
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLICPATNGSELVTVQLMVSLAQLISVHEREQIMTTN
VWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLYNNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVK
HFPFDQQNCTMKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTIN
LIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKYLMFTMVLVTFSIVTSVCVLN
VHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQRLRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLA
GAFGAEPAPVAGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQ
PLFQNYTTTTFLHSDHSAPSSK*

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

Gene Symbol:CHRNB2
Accession:XM_017000180
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000623783 CLINVAR
  RCV001338071 CLINVAR
dbSNP (RS) rs746480833 CLINVAR
MedGen C0950123 CLINVAR
  C3696898 CLINVAR
NCBI Gene CHRNB2 CLINVAR
OMIM 118507 CLINVAR