chr1:45797914:C>T Detail (hg19) (MUTYH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:45,797,914-45,797,914 |
hg38 | chr1:45,332,242-45,332,242 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001048172.1:c.773G>A | NP_001041637.1:p.Gly258Glu |
NM_001048173.1:c.773G>A | NP_001041638.1:p.Gly258Glu | |
NM_001293196.1:c.773G>A | NP_001280125.1:p.Gly258Glu |
Summary
MGeND
Clinical significance |
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Variant entry | 25 |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2021/03/19 | control |
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MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
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2021/03/19 | Colorectal |
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MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
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2021/03/19 | pancreatic |
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MGS000051
(TMGS000115) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-01-04 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
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Detail |
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2023-09-20 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2021-07-01 | no assertion criteria provided | Gastric 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 | |
0.480 | Colorectal Adenomatous Polyposis, Autosomal Recessive | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) AND not provided | ClinVar | Detail |
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) AND Familial adenomatous polyposis 2 | ClinVar | Detail |
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) AND Gastric cancer | 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
- rs730881833 dbSNP
- Genome
- hg19
- Position
- chr1:45,797,914-45,797,914
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs730881833
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0002
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8616
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1606313834726091E-4
- Chromosome Counts in All Race (ExAC)
- 120174
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4963802486394726E-5
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