Variant #0000001292 (NC_000017.11:g.43097347del, NC_000017.11(NM_007294.3):c.548-58del (BRCA1))

Individual ID 00000262
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43097347del
Published as IVS8-57delT
Reference P Balraj et al. (2002), dbSNP, ClinVar
DB-ID BRCA1_000085 See all 2 reported entries
dbSNP ID rs8176144
Frequency 1/8
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-15 15:49:47 +08:00 (CST)
Date last edited 2021-08-30 11:53:58 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BRCA1 NM_007294.3 -/. - c.548-58del IVS8-57delT r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000277 DNA PCR BRCA1 8 Nuur Athirah Binti Mohd Daud