Individual #00020945

Reference -
Gender F
Geographic origin Ios
Geographic origin Asia Minor
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, ENC, NF, TRC
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     
0000012848 41y - - - - Despoina Kalfakakou
0000012849 41y - - - - Despoina Kalfakakou

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012845 42y - - - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012846 24y - - Follicular Despoina Kalfakakou
0000012847 17y - - - Despoina Kalfakakou

Neurofibromas (NF)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012850 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001592 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.14208787G>C - XPC_000016 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.426-34C>G, NM_004628.4:c.537-34C>G r.(=) p.(=)
9 Parent #2 -?/-? g.97912270A>G - FANCC_000039 rs1588181585 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.621T>C, NM_001243743.1:c.621T>C, NM_001243744.1:c.621T>C r.(=) p.(=)
10 Parent #2 -?/-? g.72358722T>C - PRF1_000014 rs28933375 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
10 Parent #2 +/+ g.89711971A>T - PTEN_000015 - - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.589A>T r.(?) p.(Lys197*)
11 Parent #2 ?/? g.108178576T>C - ATM_000067 rs368669649 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5675-48T>C r.(=) p.(=)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
14 Parent #2 -?/-? g.65560510A>G - MAX_000011 rs771488967 - Germline - - - - Despoina Kalfakakou MAX - NM_001271068.1:c.60T>C, NM_001271069.1:c.60T>C, NM_002382.4:c.87T>C, NM_145112.2:c.60T>C, NM_145113.2:c.87T>C, NM_145114.2:c.87T>C, NM_197957.3:c.87T>C r.(=) p.(=)
14 Parent #2 ?/? g.95566123A>T - DICER1_000040 rs941973586 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.4200T>A, NM_001271282.1:c.4200T>A, NM_030621.3:c.4200T>A, NM_177438.2:c.4200T>A r.(?) p.(Asp1400Glu)
15 Parent #2 ?/? g.40501871C>T - BUB1B_000056 rs577591919 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2179C>T r.(?) p.(Arg727Cys)
16 Parent #2 -/- g.2114422C>T - TSC2_000048 rs45517180 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1593C>T, NM_001077183.1:c.1593C>T, NM_001114382.1:c.1593C>T r.(=) p.(=)
17 Parent #2 ./. g.58740529C>T - chr17_000001 - - - - - - - Despoina Kalfakakou PPM1D - NM_003620.3:c.1434C>T r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
Legend