Individual #00017927

Reference -
Gender F
Geographic origin Livadeia
Geographic origin Constantinople
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     
0000010760 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002071 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.45797157G>T - MUTYH_000006 rs144079536 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1216C>A, NM_001048172.1:c.1177C>A, NM_001048173.1:c.1174C>A, NM_001048174.1:c.1174C>A, NM_001128425.1:c.1258C>A, NM_012222.2:c.1249C>A r.(?) p.(Leu406Met), p.(Leu393Met), p.(Leu392Met), p.(Leu420Met), p.(Leu417Met)
1 Parent #2 ?/? g.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - 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.(=)
1 Parent #2 ?/? g.161293488A>T - SDHC_000001 - - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+28A>T, NM_001035512.1:c.77+28A>T, NM_001035513.1:c.20+9273A>T, NM_001278172.1:c.77+28A>T, NM_003001.3:c.77+28A>T r.(=) p.(=)
3 Parent #2 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
11 Parent #2 ?/? g.108123684T>C - ATM_000225 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1898+45T>C r.(=) p.(=)
16 Parent #2 ?/? g.2107203G>A - TSC2_000303 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.848+24G>A, NM_001077183.1:c.848+24G>A, NM_001114382.1:c.848+24G>A r.(=) p.(=)
16 Parent #2 -/- g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5260-15C>T, NM_001077183.1:c.5059-15C>T, NM_001114382.1:c.5191-15C>T r.(=) p.(=)
16 Parent #2 ?/? g.89805935G>T - FANCA_000053 rs755375493 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3961C>A r.(?) p.(Arg1321Ser)
16 Parent #2 ?/? g.89874749C>A - FANCA_000030 rs143262599 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.549G>T, NM_001018112.1:c.549G>T r.(?) p.(Trp183Cys)
17 Parent #2 -/- g.7578146T>C - TP53_000002 rs34949160 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.672+31A>G, NM_001126112.2:c.672+31A>G, NM_001126113.2:c.672+31A>G, NM_001126114.2:c.672+31A>G, NM_001126115.1:c.276+31A>G, NM_001126116.1:c.276+31A>G, NM_001126117.1:c.276+31A>G, NM_001126118.1:c.555+31A>G, NM_001276695.1:c.555+31A>G, NM_001276696.1:c.555+31A>G, NM_001276697.1:c.195+31A>G, NM_001276698.1:c.195+31A>G, NM_001276699.1:c.195+31A>G, NM_001276760.1:c.555+31A>G, NM_001276761.1:c.555+31A>G r.(=) p.(=)
17 Parent #2 ?/? g.74471086C>G - RHBDF2_000064 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1227+26G>C, NM_024599.5:c.1314+26G>C r.(=) p.(=)
18 Parent #2 ./. g.43316927T>G - chr18_000006 - - - - - - - Despoina Kalfakakou - - - -
20 Parent #2 ./. g.60921022C>A - chr20_000003 - - - - - - - Despoina Kalfakakou - - - -
Legend