chr17:41243707:G>A Detail (hg19) (BRCA1, LOC126862571)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,243,707-41,243,707 |
hg38 | chr17:43,091,690-43,091,690 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007299.3:c.788-658C>T | |
NM_007300.3:c.3841C>T | NP_009231.2:p.Gln1281Ter | |
NM_007298.3:c.788-658C>T |
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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2020/04/20 | bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-02-22 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
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Detail |
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2016-09-08 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2021-10-19 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-04-20 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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no assertion criteria provided |
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Detail | ||
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2021-07-01 | no assertion criteria provided | Gastric cancer |
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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 | |
0.126 | 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.3841C>T (p.Gln1281Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) AND Malignant tumor of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) AND Gastric cancer | ClinVar | 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
- rs80356866 dbSNP
- Genome
- hg19
- Position
- chr17:41,243,707-41,243,707
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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