Individual #00017038

Reference -
Gender F
Geographic origin Santorini
Geographic origin -
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     
0000009371 35y - - Lobular In Situ N/A N/A N/A N/A N/A - - - Despoina Kalfakakou
0000009372 48y - - Ductal Invasive III N/A Negative Negative Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000782 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.161293488A>T - SDHC_000001 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+28A>T, NM_001035512.1:c.77+28A>T, NM_001035513.1:c.20+9273A>T, NM_001278172.1:c.77+28A>T, NM_003001.3:c.77+28A>T r.(=) p.(=)
3 Parent #2 ./. g.10183714C>G - VHL_000004 rs63650860 - - - - - - Despoina Kalfakakou VHL - NM_000551.3:c.183C>G, NM_198156.2:c.183C>G r.(=) p.(=)
8 Parent #2 ./. g.145738720C>T - RECQL4_000112 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2345G>A - p.?
12 Parent #2 ./. g.121416922C>T - HNF1A_000028 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.326+25C>T r.(=) p.(=)
13 Parent #2 ./. g.32953604G>A - BRCA2_000103 rs59004709 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8905G>A r.(?) p.(Val2969Met)
16 Parent #2 ./. g.89845296_89845299del - FANCA_000095 rs56163653 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1777-41_1777-38del r.(=) p.(=)
17 Parent #2 ./. g.7574013G>A - TP53_000013 - - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.1014C>T, NM_001126112.2:c.1014C>T, NM_001126113.2:c.*33C>T, NM_001126114.2:c.*121C>T, NM_001126115.1:c.618C>T, NM_001126116.1:c.*121C>T, NM_001126117.1:c.*33C>T, NM_001126118.1:c.897C>T, NM_001276695.1:c.*33C>T, NM_001276696.1:c.*121C>T, NM_001276697.1:c.537C>T, NM_001276698.1:c.*121C>T, NM_001276699.1:c.*33C>T, NM_001276760.1:c.897C>T, NM_001276761.1:c.897C>T r.(=) p.(=)
17 Parent #2 ./. g.7579642C>T - TP53_000011 - - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.97-52G>A, NM_001126112.2:c.97-52G>A, NM_001126113.2:c.97-52G>A, NM_001126114.2:c.97-52G>A, NM_001126115.1:c.-1109G>A, NM_001126116.1:c.-1109G>A, NM_001126117.1:c.-1109G>A, NM_001126118.1:c.-21-52G>A, NM_001276695.1:c.-21-52G>A, NM_001276696.1:c.-21-52G>A, NM_001276697.1:c.-1190G>A, NM_001276698.1:c.-1190G>A, NM_001276699.1:c.-1190G>A, NM_001276760.1:c.-21-52G>A, NM_001276761.1:c.-21-52G>A r.(=) p.(=)
17 Parent #2 ./. g.29541635T>G - NF1_000194 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1527+32T>G, NM_001042492.2:c.1527+32T>G, NM_001128147.2:c.1527+32T>G 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.48586228T>C - SMAD4_000003 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.905-8T>C r.(=) p.(=)
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