Individual #00016900

Reference -
Gender F
Geographic origin Patra
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, NF1
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009178 31y - - Ductal Invasive III III Positive Positive Negative - - - Despoina Kalfakakou

Neurofibromatosis, type 1 (NF1)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009179 31y - - - - Despoina Kalfakakou
0000009180 - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000646 DNA SEQ-NG-I 1 - 43 Despoina Kalfakakou



Variants

43 entries on 1 page. Showing entries 1 - 43.
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.10084739T>C - FANCD2_000076 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.894T>C, NM_033084.3:c.894T>C r.(=) p.(=)
3 Parent #2 ./. g.10088329C>A - FANCD2_000078 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1200C>A, NM_033084.3:c.1200C>A r.(?) p.(Asp400Glu)
4 Parent #2 ./. g.100239344A>G - chr4_000012 rs28913916 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.6042126T>C - PMS2_000049 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.495A>G r.(=) p.(=)
7 Parent #2 ./. g.6042129G>A - PMS2_000033 rs35311046 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.492C>T r.(=) p.(=)
7 Parent #2 ./. g.6042143G>T - PMS2_000043 rs36038802 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.478C>A r.(?) p.(Gln160Lys)
7 Parent #2 ./. g.6043658A>G - PMS2_000040 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.195T>C r.(=) p.(=)
7 Parent #2 ./. g.66453508A>T - SBDS_000010 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-22T>A r.(=) p.(=)
7 Parent #2 ./. g.116436095C>T - MET_000006 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.4090C>T, NM_001127500.1:c.4144C>T r.(?) p.(Pro1364Ser), p.(Pro1382Ser)
8 Parent #2 ./. g.30969150C>G - WRN_000062 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2108C>G r.(?) p.(Thr703Ser)
8 Parent #2 ./. g.128320300C>A - chr8_000023 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.145738644C>T - RECQL4_000070 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
10 Parent #2 ./. g.21830059A>G - chr10_000016 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.89011098T>A - chr11_000007 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ./. g.45636173C>A - FANCM_000048 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1809C>A r.(=) p.(=)
15 Parent #2 ./. g.91341588G>T - BLM_000051 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3358+21G>T r.(=) p.(=)
16 Parent #2 ./. g.14029516G>C - ERCC4_000021 rs1800068 - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1727G>C r.(?) p.(Arg576Thr)
16 Parent #2 ./. g.23640635T>C - PALB2_000037 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2515-39A>G r.(=) p.(=)
17 Parent #2 ./. g.25541247G>A - chr17_000009 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.29528206A>G - NF1_000040 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1185+29A>G, NM_001042492.2:c.1185+29A>G, NM_001128147.2:c.1185+29A>G r.(=) p.(=)
17 Parent #2 ./. g.29528518T>C - NF1_000001 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1260+15T>C, NM_001042492.2:c.1260+15T>C, NM_001128147.2:c.1260+15T>C r.(=) p.(=)
17 Parent #2 ./. g.29541589A>G - NF1_000056 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1513A>G, NM_001042492.2:c.1513A>G, NM_001128147.2:c.1513A>G r.(?) p.(Lys505Glu)
17 Parent #2 ./. g.29550425G>A - NF1_000041 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1722-37G>A, NM_001042492.2:c.1722-37G>A, NM_001128147.2:c.*1417G>A r.(=) p.(=)
17 Parent #2 ./. g.29550426A>T - NF1_000042 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1722-36A>T, NM_001042492.2:c.1722-36A>T, NM_001128147.2:c.*1418A>T r.(=) p.(=)
17 Parent #2 ./. g.29553509A>T - NF1_000095 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2058A>T, NM_001042492.2:c.2058A>T, NM_001128147.2:c.*4501A>T r.(?), r.(=) p.(Lys686Asn), p.(=)
17 Parent #2 ./. g.29556849T>A - NF1_000007 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2851-4T>A, NM_001042492.2:c.2851-4T>A r.spl? p.?
17 Parent #2 ./. g.29560048_29560049del - NF1_000174 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3525_3526del, NM_001042492.2:c.3525_3526del r.(?) p.(Arg1176Serfs*18)
17 Parent #2 ./. g.29560209A>G - NF1_000058 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3686A>G, NM_001042492.2:c.3686A>G r.(?) p.(Asn1229Ser)
17 Parent #2 ./. g.29560239A>C - NF1_000049 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3708+8A>C, NM_001042492.2:c.3708+8A>C r.(=) p.(=)
17 Parent #2 ./. g.29560240T>A - NF1_000050 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3708+9T>A, NM_001042492.2:c.3708+9T>A r.(=) p.(=)
17 Parent #2 ./. g.29562658G>A - NF1_000175 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3738G>A, NM_001042492.2:c.3738G>A r.(=) p.(=)
17 Parent #2 ./. g.29562663A>G - NF1_000176 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3743A>G, NM_001042492.2:c.3743A>G r.(?) p.(Asp1248Gly)
17 Parent #2 ./. g.29562743T>C - NF1_000137 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3823T>C, NM_001042492.2:c.3823T>C r.(?) p.(Phe1275Leu)
17 Parent #2 ./. g.29562932G>A - NF1_000139 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3871-4G>A, NM_001042492.2:c.3871-4G>A r.spl? p.?
17 Parent #2 ./. g.29585495A>G - NF1_000089 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4244A>G, NM_001042492.2:c.4307A>G r.(?) p.(Glu1415Gly), p.(Glu1436Gly)
17 Parent #2 ./. g.29586094A>G - NF1_000112 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4314A>G, NM_001042492.2:c.4377A>G r.(=) p.(=)
17 Parent #2 ./. g.29587576A>T - NF1_000082 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+43A>T, NM_001042492.2:c.4577+43A>T r.(=) p.(=)
17 Parent #2 ./. g.29588721G>A - NF1_000117 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4515-8G>A, NM_001042492.2:c.4578-8G>A r.(=) p.(=)
17 Parent #2 ./. g.29588789G>C - NF1_000065 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4575G>C, NM_001042492.2:c.4638G>C r.(=) p.(=)
17 Parent #2 ./. g.29588851C>A - NF1_000069 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4637C>A, NM_001042492.2:c.4700C>A r.(?) p.(Ser1546*), p.(Ser1567*)
17 Parent #2 ./. g.29667519C>A - NF1_000189 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6859-4C>A, NM_001042492.2:c.6922-4C>A r.spl? p.?
22 Parent #2 ./. g.29091142C>T - CHEK2_000016 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1477G>A, NM_001257387.1:c.685G>A, NM_007194.3:c.1348G>A, NM_145862.2:c.1261G>A r.(?) p.(Glu493Lys), p.(Glu229Lys), p.(Glu450Lys), p.(Glu421Lys)
22 Parent #2 ./. g.29107873G>A - CHEK2_000003 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.921+24C>T, NM_001257387.1:c.129+24C>T, NM_007194.3:c.792+24C>T, NM_145862.2:c.792+24C>T r.(=) p.(=)
Legend