chr13:32907388:TTAT> Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,907,388-32,907,391
hg38 chr13:32,333,251-32,333,254 

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.1773_1776delTTAT NP_000050.2:p.Ile591MetfsTer22
Ensemble ENST00000530893.7:c.1404_1407delTTAT ENST00000530893.7:p.Ile468MetfsTer22
ENST00000380152.8:c.1773_1776delTTAT ENST00000380152.8:p.Ile591MetfsTer22
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
Annotation

Annotations

DescrptionSourceLinks
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
rs80359304 dbSNP
Genome
hg19
Position
chr13:32,907,388-32,907,391
Variant Type
snv
Reference Allele
TTAT
Alternative Allele
-
Genome browser