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

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
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