chr1:45806053:G>A Detail (hg19) (MUTYH, TOE1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:45,806,053-45,806,053 |
hg38 | chr1:45,340,381-45,340,381 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001048171.1:c.-127C>T | |
NM_001293190.1:c.-127C>T | ||
NM_001293192.1:c.-127C>T |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_025077.3:c.52+77G>A | |
Ensemble | ENST00000372090.6:c.52+77G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
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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2021-05-11 | criteria provided, conflicting interpretations | Hereditary cancer-predisposing syndrome |
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Detail |
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no assertion criteria provided | not provided |
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Detail | |
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2023-11-27 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | meningioma | Significantly increased meningioma risk was also observed for the minor allele v... | BeFree | 20150366 | Detail |
<0.001 | Meningioma, benign, no ICD-O subtype | Significantly increased meningioma risk was also observed for the minor allele v... | BeFree | 20150366 | Detail |
0.003 | meningioma | Significantly increased meningioma risk was also observed for the minor allele v... | BeFree | 20150366 | Detail |
0.003 | meningioma | Significantly increased meningioma risk was also observed for the minor allele v... | BeFree | 20150366 | Detail |
<0.001 | Meningioma, benign, no ICD-O subtype | Significantly increased meningioma risk was also observed for the minor allele v... | BeFree | 20150366 | Detail |
<0.001 | Meningioma, benign, no ICD-O subtype | Significantly increased meningioma risk was also observed for the minor allele v... | BeFree | 20150366 | Detail |
<0.001 | melanoma | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, X... | BeFree | 22687647 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_025077.4(TOE1):c.52+77G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_025077.4(TOE1):c.52+77G>A AND not provided | ClinVar | Detail |
NM_025077.4(TOE1):c.52+77G>A AND Familial adenomatous polyposis 2 | ClinVar | Detail |
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... | DisGeNET | Detail |
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... | DisGeNET | Detail |
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... | DisGeNET | Detail |
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... | DisGeNET | Detail |
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... | DisGeNET | Detail |
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... | DisGeNET | Detail |
We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs2548... | 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
- rs3219466 dbSNP
- Genome
- hg19
- Position
- chr1:45,806,053-45,806,053
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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