chr1:45332445:C>T Detail (hg38) (MUTYH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:45,798,117-45,798,117 View the variant detail on this assembly version. |
hg38 | chr1:45,332,445-45,332,445 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001048172.1:c.650G>A | NP_001041637.1:p.Arg217His |
NM_001048173.1:c.650G>A | NP_001041638.1:p.Arg217His | |
NM_001293196.1:c.650G>A | NP_001280125.1:p.Arg217His |
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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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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2024-03-12 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-22 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2017-05-18 | criteria provided, single submitter | Neoplasm of stomach,pilomatrixoma,familial adenomatous polyposis 2 |
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Detail |
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2017-05-18 | criteria provided, single submitter | Neoplasm of stomach,pilomatrixoma,familial adenomatous polyposis 2 |
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Detail |
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2017-05-18 | criteria provided, single submitter | Neoplasm of stomach,pilomatrixoma,familial adenomatous polyposis 2 |
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Detail |
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2019-01-01 | criteria provided, single submitter | breast carcinoma |
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Detail |
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no assertion criteria provided | Carcinoma of colon |
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Detail | |
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2021-02-26 | criteria provided, single submitter | Diffuse midline glioma, H3 K27-altered |
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Detail |
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2023-11-22 | 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 | |
0.012 | MUTYH-Associate Polyposis | The impact on genetic instability of the p.Tyr179Cys and p.Arg245His MUTYH varia... | BeFree | 24569162 | Detail |
0.013 | Multiple polyps | Among patients with a family history compatible with autosomal recessive inherit... | BeFree | 16287072 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Familial adenomatous polyposis 2 | ClinVar | Detail |
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND not provided | ClinVar | Detail |
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND multiple conditions | ClinVar | Detail |
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND multiple conditions | ClinVar | Detail |
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND multiple conditions | ClinVar | Detail |
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Breast carcinoma | ClinVar | Detail |
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Carcinoma of colon | ClinVar | Detail |
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Diffuse midline glioma, H3 K27-altered | ClinVar | Detail |
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND MUTYH-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The impact on genetic instability of the p.Tyr179Cys and p.Arg245His MUTYH variants was evaluated in... | DisGeNET | Detail |
Among patients with a family history compatible with autosomal recessive inheritance (n=45), 1 (10.0... | 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
- rs140342925 dbSNP
- Genome
- hg38
- Position
- chr1:45,332,445-45,332,445
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8590
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3282887077997672E-4
- Chromosome Counts in All Race (ExAC)
- 119490
- Allele Counts in All Race (ExAC)
- 16
- Heterozygous Counts in All Race (ExAC)
- 16
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.339024186124362E-4
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