Variant #0000054173 (NC_000017.10:g.41276061A>G, BRCA1(NM_007294.3):c.53T>C)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.41276061A>G
DNA change (hg38) g.43124044A>G
Published as M18T
ISCN -
DB-ID BRCA1_000011 See all 25 reported entries
Variant remarks protein binding ability BARD1; weak binding
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) Variant not found in online data sets
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.53T>C r.(?) p.Met18Thr -