Genomic variant #0000034448

Individual ID 00017920
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.32937456A>G
Reference -
DB-ID BRCA2_000010 See all 8 reported entries
dbSNP ID rs80359055
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 0.00166
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA2 NM_000059.3 -?/-? - c.8117A>G r.(?) p.(Asn2706Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002054 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou