chr17:43082562:A>G Detail (hg38) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,234,579-41,234,579 View the variant detail on this assembly version. |
hg38 | chr17:43,082,562-43,082,562 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.4199T>C | NP_009225.1:p.Met1400Thr |
NM_007299.3:c.890T>C | NP_009230.2:p.Met297Thr | |
NM_007300.3:c.4199T>C | NP_009231.2:p.Met1400Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2003-12-23 | no assertion criteria provided | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2021-04-23 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2019-08-08 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-08-03 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.080 | breast carcinoma | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... | BeFree | 19205873 | Detail |
0.360 | Malignant neoplasm of breast | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... | BeFree | 19205873 | Detail |
0.010 | Malignant neoplasm of breast | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... | BeFree | 19205873 | Detail |
0.003 | breast carcinoma | In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t... | BeFree | 19205873 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... | DisGeNET | Detail |
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... | DisGeNET | Detail |
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... | DisGeNET | Detail |
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis... | 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 |
---|
- Gene
- -
- dbSNP
- rs80357473 dbSNP
- Genome
- hg38
- Position
- chr17:43,082,562-43,082,562
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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