Variant #0000001929 (NC_000017.11:g.43074443_43074444insCTCCT, NM_007294.3:c.4562_4563insAGGAG (BRCA1))

Individual ID 00000411
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43074443_43074444insCTCCT
Published as -
Reference Wei Xiong Wen et al. (2018)
DB-ID BRCA1_000132
dbSNP ID -
Frequency 1/359
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-02-15 15:40:50 +08:00 (CST)
Date last edited 2021-08-01 12:46:25 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BRCA1 NM_007294.3 +/. - c.4562_4563insAGGAG - r.(?) p.(Asn1521Lysfs*29) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000427 DNA MLPA;SEQ-NG-I BRCA1 14 Nuur Athirah Binti Mohd Daud