chr13:32339971:AGTAA> Detail (hg38) (BRCA2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:32,914,108-32,914,112 |
hg38 | chr13:32,339,971-32,339,975 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000059.3:c.5616_5620delAGTAA | NP_000050.2:p.Lys1872AsnfsTer2 |
Ensemble | ENST00000380152.8:c.5616_5620delAGTAA | ENST00000380152.8:p.Lys1872AsnfsTer2 |
ENST00000530893.7:c.5247_5251delAGTAA | ENST00000530893.7:p.Lys1749AsnfsTer2 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | Breast-ovarian cancer, familial, susceptibility to, 2 | NA | CLINVAR | Detail | |
0.174 | Breast Cancer, Familial | NA | CLINVAR | Detail | |
0.391 | Hereditary Breast and Ovarian Cancer Syndrome | NA | CLINVAR | Detail | |
0.128 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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
- -
- Genome
- hg38
- Position
- chr13:32,339,971-32,339,975
- Variant Type
- snv
- Reference Allele
- AGTAA
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8632
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120382
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6613779468691332E-5
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