Variant #0000008499 (NC_000017.11:g.61685986A>G, BRIP1(NM_032043.2):c.2755T>C)

Individual ID 00001500
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.61685986A>G
Reference -
DB-ID BRIP1_000002 See all 28 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

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Co_ocurrence     

RNA change     

Review status     
BRIP1 NM_032043.2 ./-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) -



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001769 DNA CNV;SEQ-NG IACA - 15-jul-2020 Multigenetic panel - 57 Silvina Sisterna-Hospital de Comunidad