chr5:112111323:T>A Detail (hg19) (APC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:112,111,323-112,111,323 |
hg38 | chr5:112,775,626-112,775,626 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000038.5:c.423-3T>A | |
NM_001127510.2:c.423-3T>A | ||
NM_001127511.2:c.453-3T>A |
Summary
MGeND
Clinical significance |
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Variant entry | 3 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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2019/02/23 | colon, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2019/02/23 | other |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-05-10 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-06-29 | criteria provided, single submitter | familial adenomatous polyposis 1 |
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Detail |
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2024-05-14 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-04-26 | criteria provided, single submitter | familial adenomatous polyposis 1 |
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Detail |
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2023-06-24 | criteria provided, single submitter | familial adenomatous polyposis 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000038.6(APC):c.423-3T>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000038.6(APC):c.423-3T>A AND Familial adenomatous polyposis 1 | ClinVar | Detail |
NM_000038.6(APC):c.423-3T>A AND not provided | ClinVar | Detail |
NM_000038.6(APC):c.423-3T>A AND Familial adenomatous polyposis 1 | ClinVar | Detail |
NM_000038.6(APC):c.423-3T>A AND Familial adenomatous polyposis 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs587782293 dbSNP
- Genome
- hg19
- Position
- chr5:112,111,323-112,111,323
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
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