chr17:43093025:C> Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,245,042-41,245,042 
hg38 chr17:43,093,025-43,093,025

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.2506delG NP_009225.1:p.Glu836LysfsTer10
NM_007299.3:c.787+1719delG
NM_007300.3:c.2506delG NP_009231.2:p.Glu836LysfsTer10
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-06-11 no assertion criteria provided hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.420 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.2506del (p.Glu836fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.2506del (p.Glu836fs) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar 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
rs587780798 dbSNP
Genome
hg38
Position
chr17:43,093,025-43,093,025
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser