Individual #00016551

Reference -
Gender F
Geographic origin Nea Maditos, Thessaloniki
Geographic origin Apollonia, Thessaloniki
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     
0000008677 23y - - Ductal Invasive III N/A Positive Negative Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000257 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.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
2 Parent #2 ./. g.48027520G>C - MSH6_000007 rs61748083 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2398G>C, NM_001281492.1:c.2008G>C, NM_001281493.1:c.1492G>C, NM_001281494.1:c.1492G>C r.(?) p.(Val800Leu), p.(Val670Leu), p.(Val498Leu)
3 Parent #2 ./. g.14208787G>C - XPC_000016 rs55644336 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.426-34C>G, NM_004628.4:c.537-34C>G r.(=) p.(=)
3 Parent #2 ./. g.37067100_37067101insA - MLH1_000014 rs57509953 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-28_1039-27insA, NM_001167617.1:c.745-28_745-27insA, NM_001167618.1:c.316-28_316-27insA, NM_001167619.1:c.316-28_316-27insA, NM_001258271.1:c.1039-28_1039-27insA, NM_001258273.1:c.316-28_316-27insA, NM_001258274.1:c.316-28_316-27insA r.(=) p.(=)
6 Parent #2 ./. g.32572288C>A - chr6_000029 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.40500788G>A - BUB1B_000015 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2010-50G>A r.(=) p.(=)
22 Parent #2 ./. g.30067928C>T - NF2_000003 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1113C>T, NM_016418.5:c.1113C>T, NM_181825.2:c.1113C>T, NM_181828.2:c.987C>T, NM_181829.2:c.990C>T, NM_181830.2:c.864C>T, NM_181831.2:c.864C>T, NM_181832.2:c.1113C>T, NM_181833.2:c.448-22813C>T r.(=) p.(=)
Legend