RGD:12887373 Rat Genome Database

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Variant: RGD:12887373 -  Homo sapiens

RGD ID: 12887373
RS ID: rs1060501343
ClinVar ID: CV391332
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127269039  MUTYH  TOE1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 45,805,893
GRCh38 1 45,340,221
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_220t1:c.34T>C
LRG_220:g.5250T>C
NG_008189.1:g.5250T>C
NC_000001.11:g.45340221A>G
More... 		06/28/2022 5 prime utr variant|missense variant uncertain significance adult 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_001048171
Location:5UTRS;EXON

Gene Symbol:TOE1
Accession:XM_047443500
Location:5UTRS;EXON

Gene Symbol:MUTYH
Accession:NM_001350651
Location:5UTRS;EXON

Gene Symbol:TOE1
Accession:XM_047443504
Location:5UTRS;EXON

Gene Symbol:TOE1
Accession:XM_005270412
Location:5UTRS;EXON

Gene Symbol:TOE1
Accession:XM_005270413
Location:5UTRS;EXON

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

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

Gene Symbol:TOE1
Accession:XM_047443512
Location:5UTRS;EXON

Gene Symbol:TOE1
Accession:NM_025077
Location:5UTRS;EXON

Gene Symbol:MUTYH
Accession:NM_001407070
Location:5UTRS;EXON

Gene Symbol:MUTYH
Accession:NM_001407071
Location:5UTRS;EXON

Gene Symbol:MUTYH
Accession:NM_001407072
Location:5UTRS;INTRON

Gene Symbol:MUTYH
Accession:XM_017001332
Location:5UTRS;INTRON

Gene Symbol:MUTYH
Accession:XM_011541503
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPLVSRLSRLRAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGAPAGLARQPEEVVLQAS
VSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQEVNQLW
AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPS
STLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP
NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQ
LQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVF
RVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPLVSRLSRLRAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGLARQPEEVVLQASVSSYHLFRDVAEVT
AFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQEVNQLWAGLGYYSRGRRLQE
GARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQ
LVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEP
WDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQELQRWA
GPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVYQGQQPGTCMGS
KRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:MUTYH
Accession:XM_047421202
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPLVSRLSRLRAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGAPAGLARQPEEVVLQAS
VSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQ
DLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVA
RVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLAS
GSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAG
LWEFPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEE
FHTAAVSTAMKKVFRVYQGQQPGTCM*

Gene Symbol:MUTYH
Accession:NM_012222
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPLVSRLSRLRAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGAPAGLARQPEEVVLQASVSS
YHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLA
SASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVL
CRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSL
SGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWE
FPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHT
AAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:MUTYH
Accession:NM_001293190
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPLVSRLSRLRAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDAGLARQPEEVVLQASVSSYHLFRDVAEV
TAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQL
WAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADP
SSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECA
PNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSE
QLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKV
FRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:MUTYH
Accession:NM_001407069
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPLVSRLSRLRAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGAPAGLARQPEEVVLQASVSS
YHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQEVNQLWAGL
GYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTL
VSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTG
QCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQR
KALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVY
QGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPLVSRLSRLRAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGAPAGLARQPEEVVLQASVSS
YHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQEVNQLWAGL
GYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTL
VSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTG
QCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQR
KALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVY
QGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:MUTYH
Accession:NM_001128425
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPLVSRLSRLRAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGAPAGLARQPEEVVLQAS
VSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQ
DLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVA
RVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLAS
GSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAG
LWEFPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEE
FHTAAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:MUTYH
Accession:NM_001407073
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPLVSRLSRLRAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGLARQPEEVVLQASVSSYHLFRDVAEVT
AFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQEVNQLWAGLGYYSRGRRLQE
GARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQ
LVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEP
WDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQELQRWA
GPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVYQGQQPGTCMGS
KRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

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

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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421199
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407077
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048173
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407079
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048172
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_017001333
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421193
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421197
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421204
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407089
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407087
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293195
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421201
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421198
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407078
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407081
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293191
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421194
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407080
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407083
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407091
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541497
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421191
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421203
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407075
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407085
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407088
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407086
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001048174
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001293196
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_011541502
Location:INTRON

Gene Symbol:MUTYH
Accession:XM_047421192
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MUTYH
Accession:NM_001407082
Location:INTRON

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000468941 CLINVAR
dbSNP (RS) rs1060501343 CLINVAR
MedGen C3272841 CLINVAR
NCBI Gene MUTYH CLINVAR
  TOE1 CLINVAR
OMIM 604933 CLINVAR
  608456 CLINVAR
  613931 CLINVAR