Genomic variant #0000019446

Individual ID 00016907
Chromosome 13
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32954037A>C
Reference -
DB-ID BRCA2_000067 See all 10 reported entries
dbSNP ID rs80359165
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00124
Allele Count 8
Allele Number 6460
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA2 NM_000059.3 -?/-? - c.9104A>C r.(?) p.(Tyr3035Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000659 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou