Genomic variant #0000018001

Individual ID 00019879
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.32893271A>G
Reference -
DB-ID BRCA2_000087 See all 7 reported entries
dbSNP ID rs4987046
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 0.00108
Allele Count 7
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.125A>G r.(?) p.(Tyr42Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000535 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou