Individual #00016760

Reference -
Gender F
Geographic origin Larisa
Geographic origin -
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     
0000008994 63y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000418 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.48026589A>G - MSH6_000022 rs1288566407 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.1467A>G, NM_001281492.1:c.1077A>G, NM_001281493.1:c.561A>G, NM_001281494.1:c.561A>G r.(=) p.(=)
10 Parent #2 ?/? g.43600359G>A - RET_000008 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.626-41G>A, NM_020975.4:c.626-41G>A r.(=) p.(=)
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
11 Parent #2 ?/? g.64575491C>A - MEN1_000015 rs376872829 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.541G>T, NM_130799.2:c.526G>T, NM_130800.2:c.541G>T, NM_130801.2:c.541G>T, NM_130802.2:c.541G>T, NM_130803.2:c.541G>T, NM_130804.2:c.541G>T r.(?) p.(Ala181Ser), p.(Ala176Ser)
14 Parent #2 +/+ g.45667921C>T - FANCM_000031 rs144567652 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5791C>T r.(?) p.(Arg1931*)
15 Parent #2 ?/? g.40512825G>A - BUB1B_000009 rs1197897748 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.3018G>A 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.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
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)
16 Parent #2 -?/-? g.89874761A>C - FANCA_000050 rs749811331 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.537T>G, NM_001018112.1:c.537T>G r.(=) p.(=)
17 Parent #2 -?/-? g.17119838C>T - FLCN_000011 rs150687840 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4855G>A, NM_144997.5:c.1177-21G>A r.(=) p.(=)
18 Parent #2 -/- g.48604848C>T - SMAD4_000004 rs11663402 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
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