chr1:45794988:G> Detail (hg19) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,794,988-45,794,988
hg38 chr1:45,329,316-45,329,316 

HGVS

Type Transcript Protein
RefSeq NM_001048172.1:c.1556delC NP_001041637.1:p.Ala519GlufsTer24
NM_001048173.1:c.1556delC NP_001041638.1:p.Ala519GlufsTer24
NM_001293196.1:c.1556delC NP_001280125.1:p.Ala519GlufsTer24
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 Conflicting classifications of pathogenicity
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2014-02-21 criteria provided, single submitter not provided germline Detail
Conflicting interpretations of pathogenicity 2023-10-15 criteria provided, conflicting interpretations familial adenomatous polyposis 2 germline unknown Detail
Conflicting interpretations of pathogenicity 2023-09-26 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.480 Colorectal Adenomatous Polyposis, Autosomal Recessive NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587780086 dbSNP
Genome
hg19
Position
chr1:45,794,988-45,794,988
Variant Type
snv
Reference Allele
G
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8654
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)
121408
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.236689509752241E-6
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