chr1:45334484:C>T Detail (hg38) (MUTYH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:45,800,156-45,800,156 View the variant detail on this assembly version. |
hg38 | chr1:45,334,484-45,334,484 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001048172.1:c.22G>A | NP_001041637.1:p.Val8Met |
NM_001048173.1:c.22G>A | NP_001041638.1:p.Val8Met | |
NM_001293196.1:c.22G>A | NP_001280125.1:p.Val8Met |
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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2023-11-28 | criteria provided, multiple submitters, no conflicts | not provided |
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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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2024-02-05 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
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Detail |
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2022-08-04 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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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 |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Impaired cognition | Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(... | BeFree | 21884718 | Detail |
<0.001 | Impaired cognition | Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(... | BeFree | 21884718 | Detail |
0.009 | Malignant neoplasm of lung | We identified three common coding region (V22M, Q324H and S501F) and intronic (1... | BeFree | 14579148 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND not provided | ClinVar | Detail |
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND not specified | ClinVar | Detail |
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Familial adenomatous polyposis 2 | ClinVar | Detail |
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Breast carcinoma | ClinVar | Detail |
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Carcinoma of colon | ClinVar | Detail |
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2... | DisGeNET | Detail |
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2... | DisGeNET | Detail |
We identified three common coding region (V22M, Q324H and S501F) and intronic (157+30A>G, 462+35G... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
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- Gene
- -
- dbSNP
- rs3219484 dbSNP
- Genome
- hg38
- Position
- chr1:45,334,484-45,334,484
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3110700254217703E-4
- Chromosome Counts in All Race (ExAC)
- 121406
- Allele Counts in All Race (ExAC)
- 5967
- Heterozygous Counts in All Race (ExAC)
- 5541
- Homozygous Counts in All Race (ExAC)
- 213
- Allele Frequency in All Race (ExAC)
- 0.04914913595703672
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