chr17:43051063:C>G Detail (hg38) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,203,080-41,203,080 View the variant detail on this assembly version. |
hg38 | chr17:43,051,063-43,051,063 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.5332G>C | NP_009225.1:p.Asp1778His |
NM_007299.3:c.2020G>C | NP_009230.2:p.Gly674Arg | |
NM_007300.3:c.5395G>C | NP_009231.2:p.Asp1799His |
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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no assertion provided | Familial cancer of breast |
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Detail | |
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2019-01-11 | criteria provided, single submitter | not provided |
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Detail |
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2022-01-14 | 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 |
---|---|---|---|---|---|
0.360 | Malignant neoplasm of breast | The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in... | BeFree | 22684231 | Detail |
0.080 | breast carcinoma | The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in... | BeFree | 22684231 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His) AND Familial cancer of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in tr... | DisGeNET | Detail |
The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in tr... | 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
- rs80357112 dbSNP
- Genome
- hg38
- Position
- chr17:43,051,063-43,051,063
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
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