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     

BRCA/FH     

Subtype     

Owner     
0000007857 38y - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 rs112883709 - Germline - - - - 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 rs139336186 - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
11 Parent #2 -?/-? g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
11 Parent #2 ?/? g.95562311C>T - CEP57_000001 - - Germline - - - - 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 rs143667470 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1259G>A r.(?) p.(Arg420His)
16 Parent #2 ?/? g.2137985G>A - TSC2_000032 - - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - 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 rs370207155 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.1185A>G r.(=) p.(=)
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