RGD:8597259 Rat Genome Database

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Variant: RGD:8597259 -  Homo sapiens

RGD ID: 8597259
RS ID: rs28989185
ClinVar ID: CV21804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  BUB1B-PAK6  LOC107984763  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 40,512,842
GRCh38 15 40,220,641
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_016338.1:g.64633T>C
NC_000015.10:g.40220641T>C
NC_000015.9:g.40512842T>C
NP_001202.4:p.Leu1012Pro
More... 		10/06/2019 intron variant|missense variant pathogenic|affects|uncertain significance antenatal|neonatal/infancy <1 / 1 000 000 AllHighlyPenetrant; Colorectal cancer; Colorectal cancer, somatic; Malignant Colorectal Neoplasm; Premature chromatid separation trait; TOTAL PREMATURE CHROMATID SEPARATION TRAIT; Warburton-Anyane-Yeboa syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Colon cancer  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:BUB1B-PAK6
Accession:NM_001128628
Location:5UTRS;INTRON

Gene Symbol:BUB1B-PAK6
Accession:NM_001128629
Location:5UTRS;INTRON

Gene Symbol:BUB1B
Accession:NM_001211
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 1012
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPLDVWDR
YISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAE
EYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA
PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLE
HRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCK
EKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKL
QIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAV
LKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVTICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLP
EEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQS
PWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKLFWVAPRNSAELTVIKVSSQP
VPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYINCFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVH
GDLSPRCLILRNRIHDPYDCNKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLA
HLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNANDEATVSVPGELAAEMNGVFDTTFQSHLNKALWKVGK
LTSPGALLFQ*

Gene Symbol:LOC107984763
Accession:XR_001751506
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:15475955   PMID:18548531   PMID:20516114   PMID:25741868   PMID:28492532   PMID:31738183  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007162 CLINVAR
  RCV000007163 CLINVAR
  RCV002482838 CLINVAR
  RCV002509147 CLINVAR
dbSNP (RS) rs28989185 CLINVAR
MedGen C1850343 CLINVAR
  C1864389 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106821730 CLINVAR
  BUB1B CLINVAR
OMIM 114500 CLINVAR
  176430 CLINVAR
  257300 CLINVAR
  602860 CLINVAR
OMIM Allele 602860.0008 CLINVAR