Individual #00016942

Reference -
Gender F
Geographic origin Piraeus
Geographic origin Asia Minor
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     
0000009226 51y - - Ductal Invasive I N/A Positive Positive Negative - - - Despoina Kalfakakou
0000009227 48y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000709 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.37067096_37067103del - MLH1_000058 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
8 Parent #2 ./. g.129543973C>A - chr8_000022 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.97912307T>A - FANCC_000001 rs1800365 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
9 Parent #2 ./. g.135772161_135772162insA - TSC1_000033 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2976-21_2976-20insT, NM_001162426.1:c.2973-21_2973-20insT, NM_001162427.1:c.2823-21_2823-20insT r.(=) p.(=)
11 Parent #2 ./. g.22647116C>A - FANCF_000002 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
13 Parent #2 ./. g.32968810T>C - BRCA2_000013 rs11571818 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 ./. g.32972626A>T - BRCA2_000018 rs11571833 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
15 Parent #2 ./. g.40494700_40494701insA - BUB1B_000030 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1628+34_1628+35insA r.(=) p.(=)
15 Parent #2 ./. g.78894297G>A - chr15_000014 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.2123019G>C - TSC2_000119 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2355+35G>C, NM_001077183.1:c.2355+35G>C, NM_001114382.1:c.2355+35G>C r.(=) p.(=)
17 Parent #2 ./. g.17129682C>A - FLCN_000004 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.250-46G>T, NM_144997.5:c.250-46G>T r.(=) p.(=)
17 Parent #2 ./. g.41223119T>C - BRCA1_000007 rs28897693 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4812A>G, NM_007297.3:c.4671A>G, NM_007298.3:c.1500A>G, NM_007299.3:c.1500A>G, NM_007300.3:c.4875A>G r.(=) p.(=)
17 Parent #2 ./. g.74469914C>T - RHBDF2_000031 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1638+7G>A, NM_024599.5:c.1725+7G>A r.(=) p.(=)
17 Parent #2 ./. g.74475318C>T - RHBDF2_000021 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.314G>A, NM_024599.5:c.401G>A r.(?) p.(Gly105Glu), p.(Gly134Glu)
Legend