Variant #0000006441 (NC_000017.11:g.43092418T>C, BRCA1(NM_007294.3):c.3113A>G)

Individual ID 00001014
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43092418T>C
Reference -
DB-ID BRCA1_000006 See all 296 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options


Gene BRCA1
Transcript ID NM_007294.3
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Exon 11
DNA change (cDNA) c.3113A>G
RNA change r.(?)
Protein p.(Glu1038Gly)
Zygosity Hetero
Co_ocurrence BRCA2
Review status -


Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
BRCA1 NM_007294.3 -/- 11 c.3113A>G r.(?) p.(Glu1038Gly) Hetero BRCA2 -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000001216 DNA CNV;SEQ-NG IACA - 14-mar-2019 Specific pathology BRCA1, BRCA2 13 Silvina Sisterna-Hospital de Comunidad

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