chr13:32914939 T>TA
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.6448dupA
- Protein
- p.I2149fs
- Function
- frameshift ins
- Localization
- exon
- hg19
- chr13:32914939 T>TA
- dbSNP
- rs1010863706
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000113593.3
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000044960.4
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
- RCV000219921.2
- Hereditary cancer-predisposing syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CI022585
- Breast and/or ovarian cancer
- DM?