chr13:32954222:C>G Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,954,222-32,954,222
hg38 chr13:32,380,085-32,380,085 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.9196C>G NP_000050.2:p.Gln3066Glu
Ensemble ENST00000544455.6:c.9196C>G ENST00000544455.6:p.Gln3066Glu
ENST00000380152.8:c.9196C>G ENST00000380152.8:p.Gln3066Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
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
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2004-02-20 no assertion criteria provided Breast-ovarian cancer, familial, susceptibility to, 2 germline Detail
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
0.128 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.560 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.9196C>G (p.Gln3066Glu) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
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
rs80359180 dbSNP
Genome
hg19
Position
chr13:32,954,222-32,954,222
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser