RGD:12839818 Rat Genome Database

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Variant: RGD:12839818 -  Homo sapiens

RGD ID: 12839818
RS ID: rs1034878313
ClinVar ID: CV365360
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MUTYH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 45,799,003
GRCh38 1 45,333,331
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128425.1:c.349-7T>C
NM_001293191.2:c.298-7T>C
NM_001293190.2:c.310-7T>C
NM_012222.3:c.340-7T>C
More... 		02/06/2019 intron variant likely benign Adenomas, multiple colorectal; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; AllHighlyPenetrant; Cancer predisposition; COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; FAP type 2; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; MUTYH-associated polyposis; MUTYH-related attenuated familial adenomatous polyposis; MYH-associated polyposis; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MUTYH
Accession:NM_001350651
Location:5UTRS;INTRON

Gene Symbol:MUTYH
Accession:XM_047421204
Location:5UTRS;INTRON

Gene Symbol:MUTYH
Accession:NM_001350650
Location:5UTRS;INTRON

Gene Symbol:MUTYH
Accession:NM_001293196
Location:5UTRS;INTRON

Gene Symbol:MUTYH
Accession:NM_001293192
Location:5UTRS;INTRON

Gene Symbol:MUTYH
Accession:NM_001407091
Location:5UTRS;INTRON

Gene Symbol:MUTYH
Accession:NM_001407082
Location:5UTRS;INTRON

Gene Symbol:MUTYH
Accession:NM_001048174
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293195
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421194
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421197
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407069
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_012222
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541497
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421192
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407079
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293190
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407071
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407081
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407078
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048173
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407077
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_017001332
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407080
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407085
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293191
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541503
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421202
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407086
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421203
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407072
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048171
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407073
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407083
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407088
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407087
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407089
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048172
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421191
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421201
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407075
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541502
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_017001333
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421199
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421198
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421193
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001128425
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407070
Location:INTRON

Gene Symbol:MUTYH
Accession:NR_146882
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_176271
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_176273
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_176272
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_176269
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_146883
Location:INTRON;NON-CODING

Gene Symbol:MUTYH
Accession:NR_176274
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000429538 CLINVAR
  RCV000581011 CLINVAR
  RCV000871561 CLINVAR
dbSNP (RS) rs1034878313 CLINVAR
MedGen C0027672 CLINVAR
  C3272841 CLINVAR
  CN169374 CLINVAR
NCBI Gene MUTYH CLINVAR
OMIM 604933 CLINVAR
  608456 CLINVAR
SNOMED CT 699346009 CLINVAR