chr13:32338833:AAAG> Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,912,970-32,912,973 
hg38 chr13:32,338,833-32,338,836

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.4478_4481delAAAG NP_000050.2:p.Glu1493ValfsTer10
Ensemble ENST00000380152.8:c.4478_4481delAAAG ENST00000380152.8:p.Glu1493ValfsTer10
ENST00000530893.7:c.4109_4112delAAAG ENST00000530893.7:p.Glu1370ValfsTer10
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600185 OMIM
HGNC 1101 HGNC
Ensembl ENSG00000139618 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
0.240 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

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
-
dbSNP
rs80359454 dbSNP
Genome
hg38
Position
chr13:32,338,833-32,338,836
Variant Type
snv
Reference Allele
AAAG
Alternative Allele
-
Genome browser