chr1:45797228:C>T Detail (hg19) (MUTYH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:45,797,228-45,797,228 |
hg38 | chr1:45,331,556-45,331,556 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001048171.1:c.1145G>A | NP_001041636.1:p.Gly382Asp |
NM_001293190.1:c.1145G>A | NP_001280119.1:p.Gly382Asp | |
NM_001293192.1:c.1145G>A | NP_001280121.1:p.Gly382Asp |
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 |
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Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-04-02 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
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Detail |
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2011-09-01 | no assertion criteria provided | endometrial cancer |
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Detail |
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2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-12-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2013-09-19 | no assertion provided | not specified |
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Detail |
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2014-07-24 | no assertion criteria provided | Carcinoma of colon |
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Detail |
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2015-06-04 | no assertion criteria provided | Neoplasm of stomach,familial adenomatous polyposis 2 |
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Detail |
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2015-06-04 | no assertion criteria provided | Neoplasm of stomach,familial adenomatous polyposis 2 |
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Detail |
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2017-03-09 | no assertion criteria provided |
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Detail | |
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2016-08-26 | criteria provided, single submitter | Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |
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Detail |
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2017-05-18 | criteria provided, single submitter | familial adenomatous polyposis 2,Neoplasm of stomach,pilomatrixoma |
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Detail |
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2017-05-18 | criteria provided, single submitter | familial adenomatous polyposis 2,Neoplasm of stomach,pilomatrixoma |
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Detail |
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2017-05-18 | criteria provided, single submitter | familial adenomatous polyposis 2,Neoplasm of stomach,pilomatrixoma |
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Detail |
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2019-01-01 | criteria provided, single submitter |
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Detail | |
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2021-08-20 | no assertion criteria provided | breast carcinoma |
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Detail |
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2021-08-23 | no assertion criteria provided |
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Detail | |
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2022-03-25 | criteria provided, single submitter | Familial colorectal cancer |
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Detail |
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2024-02-21 | 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 | |
0.122 | colon carcinoma | NA | CLINVAR | Detail | |
0.121 | endometrial carcinoma | NA | CLINVAR | Detail | |
0.480 | Colorectal Adenomatous Polyposis, Autosomal Recessive | Inherited variants of MYH associated with somatic G:C-->T:A mutations in colo... | UNIPROT | 11818965 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Familial adenomatous polyposis 2 | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Endometrial cancer | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND not provided | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND not specified | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Carcinoma of colon | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Small intestine carcinoid | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Colorectal adenomatous polyposis, autosomal recess... | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND multiple conditions | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Ovarian carcinoma | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Breast carcinoma | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Colon cancer | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Familial colorectal cancer | ClinVar | Detail |
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND MUTYH-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. | 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
- rs36053993 dbSNP
- Genome
- hg19
- Position
- chr1:45,797,228-45,797,228
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8598
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1630611770179111E-4
- Chromosome Counts in All Race (ExAC)
- 119368
- Allele Counts in All Race (ExAC)
- 334
- Heterozygous Counts in All Race (ExAC)
- 330
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 0.002798069834461497
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