RGD:8597257 Rat Genome Database

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Variant: RGD:8597257 -  Homo sapiens

RGD ID: 8597257
RS ID: rs28989183
ClinVar ID: CV21801
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  BUB1B-PAK6  LOC107984763  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 40,509,781
GRCh38 15 40,217,580
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.61572G>C
NC_000015.10:g.40217580G>C
NC_000015.9:g.40509781G>C
NP_001202.4:p.Gln921His
More... 		03/01/2023 5 prime utr variant|missense variant|utr-5 pathogenic|affects|conflicting interpretations of pathogenicity|uncertain significance antenatal|neonatal/infancy <1 / 1 000 000 none provided; TOTAL PREMATURE CHROMATID SEPARATION TRAIT; Warburton-Anyane-Yeboa syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BUB1B-PAK6
Accession:NM_001128629
Location:5UTRS;EXON

Gene Symbol:BUB1B-PAK6
Accession:NM_001128628
Location:5UTRS;EXON

Gene Symbol:BUB1B
Accession:NM_001211
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 921
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPLDVWDR
YISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAE
EYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA
PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLE
HRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCK
EKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKL
QIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAV
LKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVTICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLP
EEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQS
PWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKLFWVAPRNSAELTVIKVSSQP
VPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYINCFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVH
GDLSPRCLILRNRIHDPYDCNKNNQALKIVDFSYSVDLRVHLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLA
HLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNANDEATVSVLGELAAEMNGVFDTTFQSHLNKALWKVGK
LTSPGALLFQ*

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

Variant Samples
Additional References at PubMed
PMID:15475955   PMID:18548531   PMID:20516114   PMID:28492532   PMID:28767289   PMID:29625052   PMID:36451132  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007156 CLINVAR
  RCV000007157 CLINVAR
  RCV001552489 CLINVAR
dbSNP (RS) rs28989183 CLINVAR
MedGen C1850343 CLINVAR
  C1864389 CLINVAR
  C3661900 CLINVAR
NCBI Gene 106821730 CLINVAR
  BUB1B CLINVAR
OMIM 176430 CLINVAR
  257300 CLINVAR
  602860 CLINVAR
OMIM Allele 602860.0005 CLINVAR