RGD:13704427 Rat Genome Database

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Variant: RGD:13704427 -  Homo sapiens

RGD ID: 13704427
RS ID: rs1553129371
ClinVar ID: CV537683
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MUTYH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 45,798,635
GRCh38 1 45,332,963
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350650.2:c.34-4A>G
NM_001350651.2:c.34-4A>G
NM_001293191.2:c.412-4A>G
NM_001293190.2:c.424-4A>G
More... 		11/01/2016 intron variant uncertain significance Adenomas, multiple colorectal; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; FAP type 2; MUTYH-associated polyposis; MUTYH-related attenuated familial adenomatous polyposis; MYH-associated polyposis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MUTYH
Accession:NM_001128425
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048174
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407080
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407088
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048173
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293190
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_017001333
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407072
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407082
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407091
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421204
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421194
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407083
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293196
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421203
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_012222
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001350651
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421202
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407071
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407077
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407089
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048171
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293195
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541502
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421192
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421197
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407079
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048172
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001350650
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421198
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407070
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407081
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407087
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293192
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541503
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421193
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407078
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407086
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293191
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:NM_001407085
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541497
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_017001332
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407069
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421199
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407073
Location:INTRON

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

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

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

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_176269
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000659898 CLINVAR
dbSNP (RS) rs1553129371 CLINVAR
MedGen C3272841 CLINVAR
NCBI Gene MUTYH CLINVAR
OMIM 604933 CLINVAR
  608456 CLINVAR