Individual #00017290

Reference -
Gender F
Geographic origin Corfu
Geographic origin Kavala
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     
0000009718 47y - - Ductal Invasive II N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000959 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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.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.(=)
9 Parent #2 ./. g.98209458G>A - PTCH1_000050 rs62637631 - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4080C>T, NM_001083602.1:c.3882C>T, NM_001083603.1:c.4077C>T, NM_001083604.1:c.3627C>T, NM_001083605.1:c.3627C>T, NM_001083606.1:c.3627C>T, NM_001083607.1:c.3627C>T r.(=) p.(=)
9 Parent #2 ./. g.98212108C>T - PTCH1_000066 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3549+15G>A, NM_001083602.1:c.3351+15G>A, NM_001083603.1:c.3546+15G>A, NM_001083604.1:c.3096+15G>A, NM_001083605.1:c.3096+15G>A, NM_001083606.1:c.3096+15G>A, NM_001083607.1:c.3096+15G>A r.(=) p.(=)
9 Parent #2 ./. g.98242380A>G - PTCH1_000069 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.946-8T>C, NM_001083602.1:c.748-8T>C, NM_001083603.1:c.943-8T>C, NM_001083604.1:c.493-8T>C, NM_001083605.1:c.493-8T>C, NM_001083606.1:c.493-8T>C, NM_001083607.1:c.493-8T>C r.(=) p.(=)
10 Parent #2 ./. g.88659852A>G - BMPR1A_000022 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.499A>G r.(?) p.(Met167Val)
16 Parent #2 ./. g.2122392del - TSC2_000019 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2220+28del, NM_001077183.1:c.2220+28del, NM_001114382.1:c.2220+28del r.(=) p.(=)
16 Parent #2 ./. g.3658895G>A - SLX4_000087 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.71C>T r.(?) p.(Pro24Leu)
17 Parent #2 ./. g.29483074A>G - NF1_000215 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.134A>G, NM_001042492.2:c.134A>G, NM_001128147.2:c.134A>G r.(?) p.(Asn45Ser)
17 Parent #2 ./. g.29663623T>A - NF1_000118 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6085-30T>A, NM_001042492.2:c.6148-30T>A r.(=) p.(=)
17 Parent #2 ./. g.41244113A>G - BRCA1_000073 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3435T>C, NM_007297.3:c.3294T>C, NM_007298.3:c.788-1064T>C, NM_007299.3:c.788-1064T>C, NM_007300.3:c.3435T>C r.(=) p.(=)
18 Parent #2 ./. g.48604577G>C - SMAD4_000026 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1448-49G>C r.(=) p.(=)
22 Parent #2 ./. g.29083881G>A - CHEK2_000043 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*4C>T, NM_001257387.1:c.*4C>T, NM_007194.3:c.*4C>T, NM_145862.2:c.*4C>T r.(=) p.(=)
22 Parent #2 ./. g.29091769del - CHEK2_000041 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1317del, NM_001257387.1:c.525del, NM_007194.3:c.1188del, NM_145862.2:c.1101del r.(?) p.(Val440Phefs*17), p.(Val176Phefs*17), p.(Val397Phefs*17), p.(Val368Phefs*17)
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