Variant #0000002744 (NC_000017.11:g.43106457T>C, NM_007294.3:c.211A>G (BRCA1))

Individual ID 00000329
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43106457T>C
Reference -
DB-ID BRCA1_000061 See all 10 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Florencia Petracchi-CEMIC
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2017-12-15 17:09:53 -02:00 (-02)
Date last edited N/A
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
BRCA1 NM_007294.3 +/+ 5 c.211A>G r.(?) p.(Arg71Gly) Hetero N/A -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000000377 DNA SEQ-NG CEMIC - 19-jun-2017 - BRCA1, BRCA2 20 Florencia Petracchi-CEMIC

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