Individual #00017343

Reference -
Gender F
Geographic origin Pyrgos, Elis
Geographic origin Heraklion
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     
0000009786 44y - - N/A N/A N/A N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001004 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.17354307C>T - SDHB_000017 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.477G>A r.(=) p.(=)
1 Parent #2 ./. g.45797228C>T - MUTYH_000007 rs36053993 - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145G>A, NM_001048172.1:c.1106G>A, NM_001048173.1:c.1103G>A, NM_001048174.1:c.1103G>A, NM_001128425.1:c.1187G>A, NM_012222.2:c.1178G>A r.(?) p.(Gly382Asp), p.(Gly369Asp), p.(Gly368Asp), p.(Gly396Asp), p.(Gly393Asp)
1 Parent #2 ./. g.193107353G>T - CDC73_000025 - - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.512+50G>T r.(=) p.(=)
2 Parent #2 ./. g.47702456T>G - MSH2_000058 rs78692397 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+47T>G, NM_001258281.1:c.1807+47T>G r.(=) p.(=)
3 Parent #2 ./. g.37053637del - MLH1_000068 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.677+47del, NM_001167617.1:c.383+47del, NM_001167618.1:c.-47+47del, NM_001167619.1:c.-47+47del, NM_001258271.1:c.677+47del, NM_001258273.1:c.-47+47del, NM_001258274.1:c.-47+47del r.(=) p.(=)
3 Parent #2 ./. g.37067081A>C - MLH1_000001 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-47A>C, NM_001167617.1:c.745-47A>C, NM_001167618.1:c.316-47A>C, NM_001167619.1:c.316-47A>C, NM_001258271.1:c.1039-47A>C, NM_001258273.1:c.316-47A>C, NM_001258274.1:c.316-47A>C r.(=) p.(=)
5 Parent #2 ./. g.112170736G>C - APC_000074 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.1832G>C, NM_001127510.2:c.1832G>C, NM_001127511.2:c.1778G>C r.(?) p.(Gly611Ala), p.(Gly593Ala)
11 Parent #2 ./. g.67256953C>G - AIP_000022 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.468+27C>G r.(=) p.(=)
16 Parent #2 ./. g.2115666C>T - TSC2_000182 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1716+30C>T, NM_001077183.1:c.1716+30C>T, NM_001114382.1:c.1716+30C>T r.(=) p.(=)
17 Parent #2 ./. g.59876546G>A - BRIP1_000028 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1255C>T r.(?) p.(Arg419Trp)
Legend