RGD:8593684 Rat Genome Database

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Variant: RGD:8593684 -  Homo sapiens

RGD ID: 8593684
RS ID: rs267608017
ClinVar ID: CV96494
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 47,708,015
GRCh38 2 47,480,876
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_218t1:c.2634+5G>C
LRG_218:g.82753G>C
NG_007110.2:g.82753G>C
NC_000002.12:g.47480876G>C
More... 		08/09/2023 intron|intron variant pathogenic|likely pathogenic Cancer predisposition; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; Colorectal cancer, hereditary, nonpolyposis, type 1; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary non-polyposis colorectal cancer, type 1; Lynch syndrome I; MSH2-Related Hereditary Non-Polyposis Colon Cancer; MSH2-Related Lynch Syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MSH2
Accession:NM_001406653
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 860
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPADLLLVRQYRV
EVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD
NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQRGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPE
MENQVAVSSLSAVIKFLELLSDDSNFGQFELTTFDFSQYMKLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQR
LVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQTLQEDLLRRFPDLNRLAKKFQRQAANLQDCYRLYQGINQLPNVIQA
LEKHEGKHQKLLLAVFVTPLTDLRSDFSKFQEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAA
RDLGLDPGKQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFSTVDIQKNGVKFTNSKLTSLNEEYTKNKTEYEEAQDAIVKE
IVNISSGYVEPMQTLNDVLAQLDAVVSFAHVSNGAPVPYVRPAILEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKD
KQMFHIITGPNMGGKSTYIRQTGVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSAT
KDSLIIIDELGRGTSTYDGFGLAWAISEYIATKIGAFCMFATHFHELTALANQIPTVNNLHVTALTTEETLTMLYQVKKG
VCDQSFGIHVAELANFPKHVIECAKQKALELEEFQYIGESQGYDIMEPAAKKCYLEREVSQFVFIV*

Gene Symbol:MSH2
Accession:NR_176249
Location:EXON;NON-CODING

Gene Symbol:MSH2
Accession:NM_001406634
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406638
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406659
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406666
Location:INTRON

Gene Symbol:MSH2
Accession:NM_000251
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406631
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406636
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406657
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406654
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406660
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406656
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406658
Location:INTRON

Gene Symbol:MSH2
Accession:XM_047444416
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406633
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406646
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406635
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406662
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406639
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406632
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406644
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406651
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001258281
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406647
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406643
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406642
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406674
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406650
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406645
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406655
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406661
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406648
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406637
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406669
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406641
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406640
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406649
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406652
Location:INTRON

Gene Symbol:MSH2
Accession:NM_001406672
Location:INTRON

Gene Symbol:MSH2
Accession:NR_176237
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176239
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176248
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176245
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176234
Location:INTRON;NON-CODING

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

Gene Symbol:MSH2
Accession:NR_176247
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176238
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176236
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176231
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176241
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176240
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176233
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176244
Location:INTRON;NON-CODING

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

Gene Symbol:MSH2
Accession:NR_176232
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176250
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176242
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176246
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176235
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176230
Location:INTRON;NON-CODING

Gene Symbol:MSH2
Accession:NR_176243
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:11074494   PMID:15713769   PMID:16807412   PMID:17576681   PMID:18033691   PMID:22949387   PMID:25741868   PMID:27363726   PMID:28492532   PMID:31101557  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000076521 CLINVAR
  RCV000491990 CLINVAR
  RCV001063481 CLINVAR
  RCV003452925 CLINVAR
dbSNP (RS) rs267608017 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C2936783 CLINVAR
  C4552100 CLINVAR
NCBI Gene MSH2 CLINVAR
OMIM 120435 CLINVAR
  609309 CLINVAR
SNOMED CT 699346009 CLINVAR