chr1:45332795:G>A Detail (hg38) (MUTYH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:45,798,467-45,798,467 View the variant detail on this assembly version. |
hg38 | chr1:45,332,795-45,332,795 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001048172.1:c.460C>T | NP_001041637.1:p.Arg154Cys |
NM_001048173.1:c.460C>T | NP_001041638.1:p.Arg154Cys | |
NM_001293196.1:c.460C>T | NP_001280125.1:p.Arg154Cys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-04-20 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-03-25 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
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Detail |
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2024-02-06 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2019-11-15 | criteria provided, single submitter | pilomatrixoma |
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Detail |
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2022-01-01 | criteria provided, single submitter | ovarian cancer |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND Familial adenomatous polyposis 2 | ClinVar | Detail |
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND not provided | ClinVar | Detail |
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND Pilomatrixoma | ClinVar | Detail |
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND Ovarian cancer | ClinVar | 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
- rs747993448 dbSNP
- Genome
- hg38
- Position
- chr1:45,332,795-45,332,795
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs747993448
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- 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)
- 121384
- 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)
- 8.238318064983852E-6
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