Genomic variant #0000042835

Individual ID 00022070
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32915005G>C
Reference -
DB-ID BRCA2_000320 See all 74 reported entries
dbSNP ID rs206076
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.02236
Allele Count 148
Allele Number 6618
Owner Stevi Xera
Options


Gene BRCA2
Transcript ID NM_000059.3
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Exon -
DNA change (cDNA) c.6513G>C
RNA change r.(=)
Protein p.(=)


Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA2 NM_000059.3 ./. - c.6513G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007567 DNA SEQ-NG-I 1 - 40 Stevi Xera