Individual #00015974

Reference -
Gender F
Geographic origin Izmir
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel ID 00015973
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     
0000007857 38y - - Ductal In Situ III N/A Negative Negative Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000030 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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.48018275A>G - MSH6_000013 rs1800933 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
7 Parent #2 ./. g.55221863G>T - EGFR_000002 rs41323746 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.889+18G>T, NM_201282.1:c.889+18G>T, NM_201283.1:c.889+18G>T, NM_201284.1:c.889+18G>T r.(=) p.(=)
9 Parent #2 ./. g.97912307T>A - FANCC_000001 rs1800365 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
10 Parent #2 ./. g.72360140C>T - PRF1_000005 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.519G>A, NM_005041.4:c.519G>A r.(=) p.(=)
10 Parent #2 ./. g.72360291C>T - PRF1_000006 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.368G>A, NM_005041.4:c.368G>A r.(?) p.(Arg123His)
11 Parent #2 ./. g.22646984C>T - FANCF_000001 rs61752920 - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
11 Parent #2 ./. g.67258278C>T - AIP_000004 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
11 Parent #2 ./. g.95562311C>T - CEP57_000001 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.1101-40C>T, NM_001243777.1:c.1050-40C>T, NM_014679.4:c.1128-40C>T r.(=) p.(=)
13 Parent #2 ./. g.103514758G>A - ERCC5_000008 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1259G>A r.(?) p.(Arg420His)
16 Parent #2 ./. g.2137985G>A - TSC2_000032 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
16 Parent #2 ./. g.50828088C>T - CYLD_000003 - - - - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
17 Parent #2 ./. g.66520112G>A - PRKAR1A_000001 rs28730841 - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.441-45G>A, NM_001276290.1:c.441-45G>A, NM_002734.4:c.441-45G>A, NM_212471.2:c.441-45G>A, NM_212472.2:c.441-45G>A r.(=) p.(=)
19 Parent #2 ./. g.1226529A>G - STK11_000001 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.1185A>G r.(=) p.(=)
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