chr13:32936733 A>T
Основные
- Gene
- BRCA2
- Transcript
- NM_000059.3
- cDNA
- c.7879A>T
- Protein
- p.I2627F
- Function
- missense
- Localization
- exon
- hg19
- chr13:32936733 A>T
- dbSNP
- rs80359014
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –
ClinVar
- ID
- Phenotype
- Effect
- RCV000077415.5
- Breast-ovarian cancer, familial 2
- Pathogenic
- RCV000045337.4
- Hereditary breast and ovarian cancer syndrome
- Pathogenic/Likely pathogenic
- RCV000131675.6
- Hereditary cancer-predisposing syndrome
- Pathogenic/Likely pathogenic
- RCV000218666.4
- not provided
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CM074073
- Breast and/or ovarian cancer
- DM