Individual #00017918

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Theriso, Chania
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     
0000010747 54y - - - - Despoina Kalfakakou
0000010748 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002049 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.193099415G>A - CDC73_000004 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.307+42G>A r.(=) p.(=)
5 Parent #2 -?/-? g.112162961T>C - APC_000116 rs367690523 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.1548+17T>C, NM_001127510.2:c.1548+17T>C, NM_001127511.2:c.1494+17T>C r.(=) p.(=)
8 Parent #2 ?/? g.145737039G>C - RECQL4_000079 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3503+25C>G - p.?
9 Parent #2 ?/? g.98229688A>G - PTCH1_000112 rs547954117 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2270T>C, NM_001083602.1:c.2072T>C, NM_001083603.1:c.2267T>C, NM_001083604.1:c.1817T>C, NM_001083605.1:c.1817T>C, NM_001083606.1:c.1817T>C, NM_001083607.1:c.1817T>C r.(?) p.(Phe757Ser), p.(Phe691Ser), p.(Phe756Ser), p.(Phe606Ser)
9 Parent #2 -?/-? g.98238300A>T - PTCH1_000113 rs758961945 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1728+16T>A, NM_001083602.1:c.1530+16T>A, NM_001083603.1:c.1725+16T>A, NM_001083604.1:c.1275+16T>A, NM_001083605.1:c.1275+16T>A, NM_001083606.1:c.1275+16T>A, NM_001083607.1:c.1275+16T>A r.(=) p.(=)
11 Parent #2 -?/-? g.108150365_108150367del - ATM_000032 rs545376366 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+30_3402+32del r.(=) p.(=)
13 Parent #2 -?/-? g.49039375G>A - RB1_000024 rs748094394 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2360G>A r.(?) p.(Arg787Gln)
14 Parent #2 -/- g.45606290C>T - FANCM_000011 rs77374493 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
15 Parent #2 ?/? g.89816739T>C - FANCI_000128 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+39T>C, NM_018193.2:c.975+39T>C r.(=) p.(=)
16 Parent #2 -/- g.2138546G>A - TSC2_000004 rs45517419 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5359G>A, NM_001077183.1:c.5158G>A, NM_001114382.1:c.5290G>A r.(?) p.(Gly1787Ser), p.(Gly1720Ser), p.(Gly1764Ser)
16 Parent #2 ?/? g.23641096G>A - PALB2_000031 rs377626805 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2379C>T r.(=) p.(=)
19 Parent #2 +?/+? g.45855801del - ERCC2_000059 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2009del r.(?) p.(Gly670Alafs*39)
Legend