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     

BRCA/FH     

Subtype     

Owner     
0000010745 37y - - - - 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 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
1 Parent #2 ?/? g.45805880G>A - MUTYH_000004 rs2275602 - Germline - - - - 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 rs192614006 - Germline - - - - 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 rs376469897 - Germline - - - - 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 rs368080169 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1659C>T r.(=) p.(=)
10 Parent #2 -?/-? g.104353395C>T - SUFU_000004 rs149513330 - Germline - - - - 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 rs145057187 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
11 Parent #2 ?/? g.47259380T>A - DDB2_000024 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1024-8T>A r.(=) p.(=)
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - 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 rs781200134 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6096-12C>A r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
17 Parent #2 ?/? g.29562948A>G - NF1_000052 rs143836226 - Germline - - - - 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 - Germline - - - - 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 rs587778133 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1742G>A r.(?) p.(Arg581Gln)
Legend