Individual #00016888

Reference -
Gender F
Geographic origin Messolonghi
Geographic origin Corinth
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000009162 35y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000632 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
6 Parent #2 -/- g.35428345C>T - FANCE_000004 rs141551053 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1333C>T r.(?) p.(Pro445Ser)
8 Parent #2 +?/+? g.30946482G>A - WRN_000061 rs777096501 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1652+1G>A r.spl? p.?
8 Parent #2 ?/? g.145738566C>T - RECQL4_000037 rs36115640 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+35G>A - p.?
11 Parent #2 ?/? g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 +/+ g.32913602_32913605del - BRCA2_000270 rs879254123 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5110_5113del r.(?) p.(Arg1704*)
16 Parent #2 -/- g.2134994C>T - TSC2_000081 rs35986575 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4536C>T, NM_001077183.1:c.4335C>T, NM_001114382.1:c.4467C>T r.(=) p.(=)
Legend