chr17:43063353:CTTT> Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,215,370-41,215,373 
hg38 chr17:43,063,353-43,063,356

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.5170_5173delAAAG NP_009225.1:p.Arg1726LysfsTer3
NM_007299.3:c.1858_1861delAAAG NP_009230.2:p.Arg622LysfsTer3
NM_007300.3:c.5233_5236delAAAG NP_009231.2:p.Arg1747LysfsTer3
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
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
Annotation

Annotations

DescrptionSourceLinks
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
chr17:43,063,353-43,063,356
Variant Type
snv
Reference Allele
CTTT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8590
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)
120054
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.3295850200743E-6
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