Individual #00017600

Reference -
Gender F
Geographic origin Athens
Geographic origin Alexandria
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases BrCa, CHL
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     
0000010127 35y - - N/A Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou

Classic Hodgkin's Lymphoma (CHL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Subtype     

Owner     
0000010128 15y - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001265 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.17380465G>A - SDHB_000021 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.50C>T r.(?) p.(Thr17Ile)
2 Parent #2 ./. g.47596649C>T - EPCAM_000028 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.5C>T r.(?) p.(Ala2Val)
3 Parent #1 ./. g.37067099_37067100insTATAT - MLH1_000082 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-29_1039-28insTATAT, NM_001167617.1:c.745-29_745-28insTATAT, NM_001167618.1:c.316-29_316-28insTATAT, NM_001167619.1:c.316-29_316-28insTATAT, NM_001258271.1:c.1039-29_1039-28insTATAT, NM_001258273.1:c.316-29_316-28insTATAT, NM_001258274.1:c.316-29_316-28insTATAT r.(=) p.(=)
3 Parent #2 ./. g.37067099_37067100insTATT - MLH1_000088 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-29_1039-28insTATT, NM_001167617.1:c.745-29_745-28insTATT, NM_001167618.1:c.316-29_316-28insTATT, NM_001167619.1:c.316-29_316-28insTATT, NM_001258271.1:c.1039-29_1039-28insTATT, NM_001258273.1:c.316-29_316-28insTATT, NM_001258274.1:c.316-29_316-28insTATT r.(=) p.(=)
8 Parent #2 ./. g.90996743C>G - NBN_000029 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.37+10G>C r.(=) p.(=)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - - - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.*5+24_*5+25insGG, NM_001122630.1:c.*5+24_*5+25insGG, NM_001122631.1:c.*5+24_*5+25insGG r.(=) p.(=)
13 Parent #2 ./. g.32910456C>G - BRCA2_000183 rs28897712 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1964C>G r.(?) p.(Pro655Arg)
16 Parent #2 ./. g.2112989G>A - TSC2_000161 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1378G>A, NM_001077183.1:c.1378G>A, NM_001114382.1:c.1378G>A r.(?) p.(Ala460Thr)
16 Parent #2 ./. g.2120573G>A - TSC2_000208 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1833G>A, NM_001077183.1:c.1833G>A, NM_001114382.1:c.1833G>A r.(=) p.(=)
16 Parent #2 ./. g.3640461G>A - SLX4_000106 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3178C>T r.(?) p.(Arg1060Trp)
16 Parent #2 ./. g.3658880C>T - SLX4_000109 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.86G>A r.(?) p.(Arg29His)
16 Parent #2 ./. g.52586298G>A - chr16_000016 rs45606040 - - - - - - Despoina Kalfakakou - - - -
Legend