Individual #00017541

Reference -
Gender F
Geographic origin Kos
Geographic origin Kalymnos
Population Greek
Consanguinity no
Remarks -
Panel size 1
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     
0000010034 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001188 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
1 Parent #2 ?/? g.161298222G>C - SDHC_000022 rs868556406 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.114G>C, NM_001035512.1:c.77+4762G>C, NM_001035513.1:c.21-12162G>C, NM_001278172.1:c.77+4762G>C, NM_003001.3:c.114G>C r.(?), r.(=) p.(Met38Ile), p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ?/? g.55598198T>C - KIT_000045 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+34T>C, NM_001093772.1:c.2349+34T>C r.(=) p.(=)
5 Parent #2 -?/-? g.112178805G>A - APC_000082 rs147549623 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.7514G>A, NM_001127510.2:c.7514G>A, NM_001127511.2:c.7460G>A r.(?) p.(Arg2505Gln), p.(Arg2487Gln)
8 Parent #2 -/- g.145742479C>T - RECQL4_000032 rs4251688 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.309G>A - p.?
11 Parent #2 -?/-? g.108106579T>C - ATM_000157 rs762171014 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.496+18T>C r.(=) 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.(=)
13 Parent #2 -/- g.32937521G>A - BRCA2_000078 rs28897749 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8182G>A r.(?) p.(Val2728Ile)
16 Parent #2 ?/? g.68842283G>A - CDH1_000043 rs368884824 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.388-44G>A r.(=) p.(=)
16 Parent #2 -/- g.89805045A>C - FANCA_000019 rs149531696 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4332T>G r.(=) p.(=)
16 Parent #2 ./. g.89986122C>A - chr16_000004 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.17129472T>C - FLCN_000037 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.396+18A>G, NM_144997.5:c.396+18A>G r.(=) p.(=)
Legend