RGD:14732952 Rat Genome Database

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Variant: RGD:14732952 -  Homo sapiens

RGD ID: 14732952
RS ID: rs371367632
ClinVar ID: CV634412
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 80,160,666
GRCh38 5 80,864,847
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002439.5:c.3035C>T
NG_016607.2:g.215373C>T
NC_000005.10:g.80864847C>T
NC_000005.9:g.80160666C>T
More... 		05/14/2019 missense variant uncertain significance AllHighlyPenetrant; 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: P to L (nonsynonymous)
Amino Acid Position: 1012
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAAAAPPAPPAPAFPPQLPPHIA
TEIDRRKKRPLENDGPVKKKVKKVQQKEGGSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERF
AVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDLSQFGSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMK
QQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAKGYKVGVVKQTETAALKAIGD
NRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEV
VFDSFQDSASRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDT
VDIKGSQIISGIVNLEKPVICSLAAIIKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSL
LWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEVLHSESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFL
IVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELFKDLSDFPLIKKRKDEIQ
GVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLV
LDCSAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPN
NTDLSEDSERVMIITGPNMGGKSSYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTA
EIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRDVKSLTLFVTHYLPVCELEKNYSHQVGNYHMGFLVSEDESK
LDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPGEILKKAAHKSKELEGLINTKRKRLKYFAKLWTMHNAQDLQ
KWTEEFNMEETQTSLLH*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000802084 CLINVAR
  RCV001018221 CLINVAR
  RCV003320752 CLINVAR
  RCV003461136 CLINVAR
dbSNP (RS) rs371367632 CLINVAR
MedGen C0027672 CLINVAR
  C0476089 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MSH3 CLINVAR
OMIM 600887 CLINVAR
  608089 CLINVAR
SNOMED CT 254878006 CLINVAR
  699346009 CLINVAR