chr1:45331729:G>A Detail (hg38) (MUTYH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:45,797,401-45,797,401 View the variant detail on this assembly version. |
hg38 | chr1:45,331,729-45,331,729 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001048172.1:c.1034C>T | NP_001041637.1:p.Ala345Val |
NM_001048173.1:c.1034C>T | NP_001041638.1:p.Ala345Val | |
NM_001293196.1:c.1034C>T | NP_001280125.1:p.Ala345Val |
Summary
MGeND
Clinical significance |
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Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.009 |
ToMMo:0.008 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.005 |
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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2020/07/11 | duodenum |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/07/11 | other |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/07/11 | colon, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2017/12/14 | giant cell tumor of bone |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
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Centenarian |
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MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
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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2024-02-01 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
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Detail |
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2021-05-16 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2019-03-28 | criteria provided, single submitter | MUTYH-related disorder |
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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.1034C>T (p.Ala345Val) AND not provided | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND Familial adenomatous polyposis 2 | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND not specified | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND MUTYH-related disorder | 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
- rs35352891 dbSNP
- Genome
- hg38
- Position
- chr1:45,331,729-45,331,729
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 186.25
- Standard deviation of sample read depth (HGVD)
- 86.01
- Number of reference allele (HGVD)
- 2396
- Number of alternative allele (HGVD)
- 22
- Allele Frequency (HGVD)
- 0.009098428453267164
- Gene Symbol (HGVD)
- MUTYH
- 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))
- rs35352891
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0077
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 129
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8600
- East Asian Allele Counts (ExAC)
- 40
- East Asian Heterozygous Counts (ExAC)
- 40
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.004651162790697674
- Chromosome Counts in All Race (ExAC)
- 119474
- Allele Counts in All Race (ExAC)
- 46
- Heterozygous Counts in All Race (ExAC)
- 46
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.8502100875504295E-4
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