Variant #0000001928 (NC_000017.11:g.43082434G>A, BRCA1(NM_007294.3):c.4327C>T)

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.43082434G>A
Published as -
Reference Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0016), ClinVar
DB-ID BRCA1_000037 See all 6 reported entries
dbSNP ID rs41293455
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
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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.4327C>T - r.(?) p.(Arg1443*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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