chr17:41256153:C>A Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,256,153-41,256,153 |
hg38 | chr17:43,104,136-43,104,136 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.427G>T | NP_009225.1:p.Glu143Ter |
NM_007297.3:c.286G>T | NP_009228.2:p.Glu96Ter | |
NM_007298.3:c.427G>T | NP_009229.2:p.Glu143Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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breast-ovarian cancer, familial, susceptibility to |
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MGS000067
(TMGS000139) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-04-22 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2024-01-24 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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2022-06-20 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-01-17 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2017-02-23 | criteria provided, single submitter | Familial cancer of breast |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Breast-ovarian cancer, familial, susceptibility to, 1 | NA | CLINVAR | Detail | |
0.196 | Breast Cancer, Familial | NA | CLINVAR | Detail | |
0.126 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.420 | Hereditary Breast and Ovarian Cancer Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) AND Familial cancer of breast | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | 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
- rs80356991 dbSNP
- Genome
- hg19
- Position
- chr17:41,256,153-41,256,153
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser