Individual #00016509

Reference -
Gender F
Geographic origin Crete
Geographic origin Ermioni
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     
0000008621 32y - - N/A N/A N/A N/A N/A N/A N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000223 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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.45797255G>A - MUTYH_000008 rs3219490 - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
2 Parent #2 ./. g.190732707C>T - PMS1_000016 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2473+52C>T, NM_001128143.1:c.2356+52C>T, NM_001128144.1:c.1987+52C>T r.(=) p.(=)
3 Parent #2 ./. g.10183895G>A - VHL_000006 - - - - - - - Despoina Kalfakakou VHL - NM_000551.3:c.340+24G>A, NM_198156.2:c.340+24G>A r.(=) p.(=)
7 Parent #2 ./. g.55238941G>A - EGFR_000004 rs17290246 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
8 Parent #2 ./. g.90955501A>C - NBN_000015 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.2164T>G r.(?) p.(Trp722Gly)
8 Parent #2 ./. g.90958507T>C - NBN_000005 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1931A>G r.(?) p.(Gln644Arg)
10 Parent #2 ./. g.43615142C>G - RET_000013 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2556C>G, NM_020975.4:c.2556C>G r.(?) p.(Ile852Met)
11 Parent #2 ./. g.108121572G>A - ATM_000056 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1380G>A r.(=) p.(=)
11 Parent #2 ./. g.108126966C>T - ATM_000041 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2149C>T r.(?) p.(Arg717Trp)
13 Parent #2 ./. g.49039375G>A - RB1_000024 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2360G>A r.(?) p.(Arg787Gln)
13 Parent #2 ./. g.103527869C>T - ERCC5_000030 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.3177C>T r.(=) p.(=)
16 Parent #2 ./. g.23635370C>T - PALB2_000002 rs45624036 - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2794G>A r.(?) p.(Val932Met)
16 Parent #2 ./. g.68857277C>A - CDH1_000001 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1937-25C>A r.(=) p.(=)
16 Parent #2 ./. g.89845197G>A - FANCA_000005 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
17 Parent #2 ./. g.41219739T>G - BRCA1_000031 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4987-27A>C, NM_007297.3:c.4846-27A>C, NM_007298.3:c.1675-27A>C, NM_007299.3:c.1675-27A>C, NM_007300.3:c.5050-27A>C r.(=) p.(=)
17 Parent #2 ./. g.74475332G>A - RHBDF2_000011 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.300C>T, NM_024599.5:c.387C>T r.(=) p.(=)
Legend