chr1:45797230:T>C Detail (hg19) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,797,230-45,797,230
hg38 chr1:45,331,558-45,331,558 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001293195.1:c.1103-2A>G
NM_001048172.1:c.1103-2A>G
NM_001048173.1:c.1103-2A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 604933 OMIM
HGNC 7527 HGNC
Ensembl ENSG00000132781 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4754227 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-04-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2014-10-30 criteria provided, single submitter Carcinoma of colon germline Detail
Pathogenic Likely pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 germline unknown Detail
Pathogenic 2022-11-22 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Pathogenic 2022-03-06 criteria provided, single submitter familial adenomatous polyposis 2,Gastric cancer unknown Detail
Pathogenic 2022-03-06 criteria provided, single submitter familial adenomatous polyposis 2,Gastric cancer unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.122 colon carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.1103-2A>G AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.1103-2A>G AND Carcinoma of colon ClinVar Detail
NM_001048174.2(MUTYH):c.1103-2A>G AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.1103-2A>G AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.1103-2A>G AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.1103-2A>G AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587781628 dbSNP
Genome
hg19
Position
chr1:45,797,230-45,797,230
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8594
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119306
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6763616247296866E-5
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