Individual #00016811

Reference -
Gender F
Geographic origin Perigiali, Corinth
Geographic origin Kavala
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000009067 35y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000522 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.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
1 Parent #2 +/+ g.45798117C>T - MUTYH_000015 rs140342925 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.692G>A, NM_001048172.1:c.653G>A, NM_001048173.1:c.650G>A, NM_001048174.1:c.650G>A, NM_001128425.1:c.734G>A, NM_012222.2:c.725G>A r.(?) p.(Arg231His), p.(Arg218His), p.(Arg217His), p.(Arg245His), p.(Arg242His)
2 Parent #2 -/- g.48010355G>T - MSH6_000039 rs199913053 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.-18G>T, NM_001281492.1:c.-18G>T, NM_001281493.1:c.-754G>T, NM_001281494.1:c.-1532G>T r.(=) p.(=)
2 Parent #2 ?/? g.233195530A>G - DIS3L2_000041 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12525A>G, NM_152383.4:c.2010+44A>G r.(=) p.(=)
7 Parent #2 ?/? g.148516755T>G - EZH2_000022 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.917A>C, NM_001203248.1:c.890A>C, NM_001203249.1:c.890A>C, NM_004456.4:c.932A>C, NM_152998.2:c.800A>C r.(?) p.(Tyr306Ser), p.(Tyr297Ser), p.(Tyr311Ser), p.(Tyr267Ser)
9 Parent #2 ?/? g.35075703A>G - FANCG_000012 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1192T>C r.(=) p.(=)
9 Parent #2 -?/-? g.135781317G>C - TSC1_000007 rs118203553 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1648C>G, NM_001162426.1:c.1645C>G, NM_001162427.1:c.1495C>G r.(?) p.(Gln550Glu), p.(Gln549Glu), p.(Gln499Glu)
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.89011045C>T - chr11_000020 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.78908082_78908084del - chr15_000005 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #1 ./. g.78908084dup - chr15_000003 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.89865598G>T - FANCA_000079 rs185984960 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.869C>A, NM_001018112.1:c.869C>A r.(?) p.(Ser290Tyr)
17 Parent #2 ?/? g.56780607A>G - RAD51C_000016  rs771078849 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.622A>G r.(?) p.(Ile208Val)
17 Parent #2 ?/? g.66521015A>G - PRKAR1A_000017 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.503-38A>G, NM_001276290.1:c.503-38A>G, NM_002734.4:c.503-38A>G, NM_212471.2:c.503-38A>G, NM_212472.2:c.503-38A>G r.(=) p.(=)
19 Parent #2 ?/? g.45855645C>T - ERCC2_000015 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-35G>A r.(=) p.(=)
22 Parent #2 +?/+? g.29121058C>T - CHEK2_000024 rs72552322 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.628G>A, NM_001257387.1:c.-279G>A, NM_007194.3:c.499G>A, NM_145862.2:c.499G>A r.(=), r.(?) p.(Gly210Arg), p.(=), p.(Gly167Arg)
Legend