RGD:153001889 Rat Genome Database

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Variant: RGD:153001889 -  Homo sapiens

RGD ID: 153001889
RS ID: rs2112868963
ClinVar ID: CV1685099
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 80,040,407
GRCh38 5 80,744,588
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.80744588G>A
NM_002439.5:c.1736G>A
NP_002430.3:p.Trp579Ter
NG_016607.2:g.95114G>A
More... 		03/18/2022 nonsense pathogenic|likely pathogenic Cancer predisposition; Endometrial carcinoma, somatic; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MSH3
Accession:NM_002439
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 579
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAAAAPPAPPAPAFPPQLPPHIA
TEIDRRKKRPLENDGPVKKKVKKVQQKEGGSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERF
AVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDLSQFGSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMK
QQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAKGYKVGVVKQTETAALKAIGD
NRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEV
VFDSFQDSASRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDT
VDIKGSQIISGIVNLEKPVICSLAAIIKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSL
LWVLDHTKTSFGRRKLKK*VTQPLLKLREINARLDAVSEVLHSESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFL
IVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELFKDLSDFPLIKKRKDEIQ
GVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLV
LDCSAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPN
NTDLSEDSERVMIITGPNMGGKSSYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTA
EIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRDVKSLTLFVTHYPPVCELEKNYSHQVGNYHMGFLVSEDESK
LDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPGEILKKAAHKSKELEGLINTKRKRLKYFAKLWTMHNAQDLQ
KWTEEFNMEETQTSLLH*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27476653   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002257300 CLINVAR
  RCV003101423 CLINVAR
  RCV003458853 CLINVAR
  RCV003464416 CLINVAR
dbSNP (RS) rs2112868963 CLINVAR
MedGen C0027672 CLINVAR
  C0476089 CLINVAR
  C3661900 CLINVAR
  C4310719 CLINVAR
NCBI Gene MSH3 CLINVAR
OMIM 600887 CLINVAR
  608089 CLINVAR
  617100 CLINVAR
SNOMED CT 254878006 CLINVAR
  699346009 CLINVAR