Individual #00019969

Reference -
Gender F
Geographic origin Prousa, Asia Minor
Geographic origin Siros
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, CRC
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     
0000012187 71y - - - N/A III - N/A N/A N/A - - - Despoina Kalfakakou

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subcategory     

Histology     

Grade     

Stage     

LN     

MSI     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012186 68y - - Left Side - II IV Negative - No No No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000614 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.17349074C>T - SDHB_000001 rs41273161 - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.765+29G>A r.(=) p.(=)
3 Parent #1 ./. 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.(=)
3 Parent #2 ./. g.37067097_37067103del - MLH1_000059 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-31_1039-25del, NM_001167617.1:c.745-31_745-25del, NM_001167618.1:c.316-31_316-25del, NM_001167619.1:c.316-31_316-25del, NM_001258271.1:c.1039-31_1039-25del, NM_001258273.1:c.316-31_316-25del, NM_001258274.1:c.316-31_316-25del r.(=) p.(=)
5 Parent #2 ./. g.112102857G>C - APC_000048 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.221-29G>C, NM_001127510.2:c.221-29G>C, NM_001127511.2:c.251-29G>C r.(=) p.(=)
8 Parent #2 ./. g.31030472T>C - WRN_000039 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.4192-39T>C r.(=) p.(=)
12 Parent #2 ./. g.121431317C>T - HNF1A_000024 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.527-6C>T r.(=) p.(=)
13 Parent #2 ./. g.49039095del - RB1_000023 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ./. g.49039095dup - RB1_000022 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
16 Parent #2 ./. g.23637693T>C - PALB2_000036 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2612A>G r.(?) p.(Asp871Gly)
17 Parent #2 ./. g.56772522G>A - RAD51C_000007 rs61758784 - - - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 ./. g.56780540G>T - RAD51C_000004 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
X Parent #2 ./. g.132795928A>G - GPC3_000006 - - - - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1362-50T>C, NM_001164618.1:c.1245-50T>C, NM_001164619.1:c.1131-50T>C, NM_004484.3:c.1293-50T>C r.(=) p.(=)
Legend