chr17:43076488:C>T Detail (hg38) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,228,505-41,228,505 View the variant detail on this assembly version. |
hg38 | chr17:43,076,488-43,076,488 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.4484G>A | NP_009225.1:p.Arg1495Lys |
NM_007299.3:c.1172G>A | NP_009230.2:p.Arg391Lys | |
NM_007300.3:c.4547G>A | NP_009231.2:p.Arg1516Lys |
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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2022-08-24 | criteria provided, multiple submitters, no conflicts | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2024-01-30 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-01-09 | 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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2023-10-28 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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no assertion criteria provided | 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.4484G>A (p.Arg1495Lys) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) AND Malignant tumor of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) 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
- rs80357389 dbSNP
- Genome
- hg38
- Position
- chr17:43,076,488-43,076,488
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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