Individual #00016505

Reference -
Gender M
Geographic origin Epanomi, Thessaloniki
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BladCa, BrCa, HNSCC
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     
0000008615 81y - - N/A N/A N/A N/A Positive Positive N/A - - - Despoina Kalfakakou

Bladder Cancer (BladCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000008616 86y - - - - - - - - Despoina Kalfakakou

Head and Neck Cancer (HNSCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Histology     

Stage     

Subtype     

Owner     
0000008617 78y - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000221 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
2 Parent #2 ./. g.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
3 Both (homozygous) ./. g.37067096_37067102del - MLH1_000005 rs71831268 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
8 Parent #2 ./. g.145736988G>A - RECQL4_000075 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3504-50C>T - p.?
8 Parent #2 ./. g.145741236A>G - RECQL4_000050 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1170T>C - p.?
11 Parent #2 ./. g.22646484T>C - FANCF_000006 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.873A>G r.(=) p.(=)
11 Parent #2 ./. g.22646784G>C - FANCF_000007 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.573C>G r.(?) p.(Ser191Arg)
11 Parent #2 ./. g.22647387A>G - FANCF_000004 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.-31T>C r.(=) p.(=)
13 Parent #2 ./. g.32905024A>G - BRCA2_000030 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.682-32A>G r.(=) p.(=)
17 Parent #2 ./. g.29533212C>T - NF1_000097 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1261-46C>T, NM_001042492.2:c.1261-46C>T, NM_001128147.2:c.1261-46C>T r.(=) p.(=)
Legend