Variant #0000084523 (NC_000017.10:g.41215935T>C, NM_007294.3:c.5108A>G (BRCA1))

Individual ID 00054632
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41215935T>C
DNA change (hg38) g.43063918T>C
Published as -
ISCN -
DB-ID BRCA1_003007 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Soo Hwang Teo
Database submission license No license selected
Created by Soo Hwang Teo
Date created 2015-11-03 05:08:32 +01:00 (CET)
Date last edited 2016-08-05 14:13:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 ?/? 18 c.5108A>G r.(?) p.(Tyr1703Cys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054579 DNA SEQ - - BRCA1, BRCA2 1 Soo Hwang Teo


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