chr17:41251834:G>A Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,251,834-41,251,834 |
hg38 | chr17:43,099,817-43,099,817 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007299.3:c.505C>T | NP_009230.2:p.Gln169Ter |
NM_007300.3:c.505C>T | NP_009231.2:p.Gln169Ter | |
NM_007297.3:c.364C>T | NP_009228.2:p.Gln122Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
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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2018/01/13 | breast, unspecified |
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MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
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2021/03/19 | breast |
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MGS000048
(TMGS000112) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-06-13 | 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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2019-06-11 | no assertion criteria provided | Breast and/or ovarian cancer |
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Detail |
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2021-06-28 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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no assertion criteria provided |
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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 | |
0.420 | Hereditary Breast and Ovarian Cancer Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) AND Malignant tumor of breast | ClinVar | 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
- rs80357133 dbSNP
- Genome
- hg19
- Position
- chr17:41,251,834-41,251,834
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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