Variant #0000054181 (NC_000017.10:g.41276053T>C, BRCA1(NM_007294.3):c.61A>G)

Chromosome 17
Allele Unknown
Affects function (as reported) 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 peptide binding ability BRCA1/RING-BARD1; as wildtype control
Reference PubMed: Sarkar and Magliery 2008
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 Peter Devilee
Database submission license No license selected
Created by Maaike Vreeswijk
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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 -