chr17:43124030:CT> Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,276,047-41,276,048 
hg38 chr17:43,124,030-43,124,031

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.66_67delAG NP_009225.1:p.Glu23ValfsTer17
NM_007299.3:c.66_67delAG NP_009230.2:p.Glu23ValfsTer17
NM_007300.3:c.66_67delAG NP_009231.2:p.Glu23ValfsTer17
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
Links
Type Database ID Link
Gene MIM 113705 OMIM
HGNC 1100 HGNC
Ensembl ENSG00000012048 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv229968221 TogoVar
COSMIC COSM35893 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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
<0.001 renal cell carcinoma We report the first tumor study of renal cell carcinoma in a carrier of the dele... BeFree 23086583 Detail
0.120 Pancreatic cancer, susceptibility to, 4 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We report the first tumor study of renal cell carcinoma in a carrier of the deleterious BRCA1 mutati... 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
chr17:43,124,030-43,124,031
Variant Type
snv
Reference Allele
CT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8640
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)
120972
Allele Counts in All Race (ExAC)
29
Heterozygous Counts in All Race (ExAC)
29
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.3972489501702872E-4
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