Variant #0000030568 (NC_000017.10:g.41258450A>T, NC_000017.10(NM_007294.3):c.212+23T>A (BRCA1))

Individual ID 00011093
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41258450A>T
DNA change (hg38) g.43106433A>T
Published as -
ISCN -
DB-ID BRCA1_001166 See all 14 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00249 View details
Owner Hans Gille
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-02-04 22:33:55 +01:00 (CET)
Date last edited 2025-03-11 16:53:16 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 -/- 5i c.212+23T>A r.(spl?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011007 DNA SEQ ? - BRCA1, BRCA2 2 Hans Gille


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