Individual #00017916

Reference -
Gender F
Geographic origin Messolonghi
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     
0000010745 37y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001672 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.17355218A>G - SDHB_000003 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
1 Parent #2 ./. g.45805880G>A - MUTYH_000004 rs2275602 - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.36+11C>T, NM_001048172.1:c.-239C>T, NM_001048173.1:c.-239C>T, NM_001048174.1:c.-316C>T, NM_001128425.1:c.36+11C>T, NM_012222.2:c.36+11C>T r.(=) p.(=)
2 Parent #2 ./. g.48032033C>T - MSH6_000017 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3439-16C>T, NM_001281492.1:c.3049-16C>T, NM_001281493.1:c.2533-16C>T, NM_001281494.1:c.2533-16C>T r.(=) p.(=)
4 Parent #2 ./. g.55561756G>A - KIT_000058 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.146G>A, NM_001093772.1:c.146G>A r.(?) p.(Arg49His)
5 Parent #2 ./. g.112176819C>T - APC_000002 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5528C>T, NM_001127510.2:c.5528C>T, NM_001127511.2:c.5474C>T r.(?) p.(Pro1843Leu), p.(Pro1825Leu)
8 Parent #2 ./. g.118825174G>A - EXT1_000025 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1659C>T r.(=) p.(=)
10 Parent #2 ./. g.104353395C>T - SUFU_000004 - - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.600C>T, NM_016169.3:c.600C>T r.(=) p.(=)
11 Parent #2 ./. g.22647116C>A - FANCF_000002 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
11 Parent #2 ./. g.47259380T>A - DDB2_000024 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1024-8T>A r.(=) p.(=)
11 Parent #2 ./. g.64572560C>T - MEN1_000003 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
11 Parent #2 ./. g.108186726C>A - ATM_000197 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6096-12C>A r.(=) p.(=)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
17 Parent #2 ./. g.29562948A>G - NF1_000052 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3883A>G, NM_001042492.2:c.3883A>G r.(?) p.(Thr1295Ala)
17 Parent #2 ./. g.41245667G>C - BRCA1_000006 rs80356838 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1881C>G, NM_007297.3:c.1740C>G, NM_007298.3:c.787+1094C>G, NM_007299.3:c.787+1094C>G, NM_007300.3:c.1881C>G r.(=) p.(=)
17 Parent #2 ./. g.59858253C>T - BRIP1_000066 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1742G>A r.(?) p.(Arg581Gln)
Legend