Individual #00016771

Reference -
Gender F
Geographic origin Neapoli, Laconia
Geographic origin -
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009011 43y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000462 DNA SEQ-NG-I 1 - 36 Despoina Kalfakakou



Variants

36 entries on 1 page. Showing entries 1 - 36.
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     
2 Parent #2 ./. g.29498008G>A - ALK_000035 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1998C>T r.(=) p.(=)
2 Parent #2 ./. g.47635722del - MSH2_000031 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.366+28del, NM_001258281.1:c.168+28del r.(=) p.(=)
3 Parent #2 ./. g.10091153C>T - FANCD2_000017 rs6785756 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
3 Parent #1 ./. g.37067094_37067102del - MLH1_000003 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 ./. g.37067095_37067102del - MLH1_000024 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
7 Parent #2 ./. g.6042310A>G - PMS2_000011 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-43T>C r.(=) p.(=)
7 Parent #2 ./. g.55240780G>A - EGFR_000006 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2024G>A, NM_201282.1:c.*4558G>A, NM_201284.1:c.*2543G>A r.(?), r.(=) p.(Arg675Gln), 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.66453515C>A - SBDS_000009 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
8 Parent #2 ./. g.90983460G>A - NBN_000017 rs34767364 - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.643C>T r.(?) p.(Arg215Trp)
9 Parent #2 ./. g.98231110G>A - PTCH1_000015 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
10 Parent #2 ./. g.88659672G>A - BMPR1A_000002 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
10 Parent #2 ./. g.88679035A>G - BMPR1A_000003 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.975A>G r.(=) p.(=)
11 Parent #2 ./. g.89011098T>A - chr11_000007 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 ./. g.32913562A>C - BRCA2_000079 rs56087561 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5070A>C r.(?) p.(Lys1690Asn)
13 Parent #2 ./. g.35252846C>A - chr13_000002 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.89811713A>G - FANCI_000048 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.839A>G, NM_018193.2:c.839A>G r.(?) p.(Lys280Arg)
17 Parent #2 ./. g.29527450T>C - NF1_000143 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.899T>C, NM_001042492.2:c.899T>C, NM_001128147.2:c.899T>C r.(?) p.(Leu300Pro)
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.29541542A>G - NF1_000144 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1466A>G, NM_001042492.2:c.1466A>G, NM_001128147.2:c.1466A>G r.(?) p.(Tyr489Cys)
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.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.29557936C>A - NF1_000130 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3190C>A, NM_001042492.2:c.3190C>A r.(?) p.(Leu1064Ile)
17 Parent #2 ./. g.29559836A>G - NF1_000054 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3433A>G, NM_001042492.2:c.3433A>G r.(?) p.(Thr1145Ala)
17 Parent #2 ./. g.29559838G>A - NF1_000053 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3435G>A, NM_001042492.2:c.3435G>A r.(=) p.(=)
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.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.29588678G>C - NF1_000116 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4515-51G>C, NM_001042492.2:c.4578-51G>C 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.66525118T>C - PRKAR1A_000008 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.877T>C, NM_001276290.1:c.877T>C, NM_002734.4:c.877T>C, NM_212471.2:c.877T>C, NM_212472.2:c.877T>C r.(?) p.(Phe293Leu)
17 Parent #2 ./. g.66525120C>T - PRKAR1A_000009 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.879C>T, NM_001276290.1:c.879C>T, NM_002734.4:c.879C>T, NM_212471.2:c.879C>T, NM_212472.2:c.879C>T r.(=) p.(=)
17 Parent #2 ./. g.66526601C>T - PRKAR1A_000010 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.*11C>T, NM_001276290.1:c.973+459C>T, NM_002734.4:c.*11C>T, NM_212471.2:c.*11C>T, NM_212472.2:c.*11C>T r.(=) p.(=)
17 Parent #2 ./. g.66526604T>G - PRKAR1A_000011 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.*14T>G, NM_001276290.1:c.973+462T>G, NM_002734.4:c.*14T>G, NM_212471.2:c.*14T>G, NM_212472.2:c.*14T>G r.(=) p.(=)
19 Parent #2 ./. g.1219459A>G - STK11_000009 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.464+47A>G r.(=) p.(=)
Legend