Variant #0000054177 (NC_000017.10:g.41276053T>C, BRCA1(NM_007294.3):c.61A>G)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.41276053T>C
DNA change (hg38) g.43124036T>C
Published as I21V
ISCN -
DB-ID BRCA1_000012 See all 6 reported entries
Variant remarks Homology directed recombination; no impact on protein function
Reference PubMed: Ransburgh 2010
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Maaike Vreeswijk
Database submission license No license selected
Created by Maaike Vreeswijk
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 -?/. 2 c.61A>G r.(?) p.Ile21Val -