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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000010747 54y - - N/A In Situ N/A N/A N/A N/A N/A - - - Despoina Kalfakakou
0000010748 39y - - Ductal Invasive II N/A N/A N/A N/A - - - 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 - - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.307+42G>A r.(=) p.(=)
5 Parent #2 ./. g.112162961T>C - APC_000116 - - - - - - - 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 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3503+25C>G - p.?
9 Parent #2 ./. g.98229688A>G - PTCH1_000112 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+30_3402+32del r.(=) p.(=)
13 Parent #2 ./. g.49039375G>A - RB1_000024 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2360G>A r.(?) p.(Arg787Gln)
14 Parent #2 ./. g.45606290C>T - FANCM_000011 rs77374493 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
15 Parent #2 ./. g.89816739T>C - FANCI_000128 - - - - - - - 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 - - - - - - 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 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2379C>T r.(=) p.(=)
19 Parent #2 ./. g.45855801del - ERCC2_000059 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2009del r.(?) p.(Gly670Alafs*39)
Legend