Individual #00017166

Reference -
Gender F
Geographic origin Sycurium, Larisa
Geographic origin Ampelakia, Larisa
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     
0000009526 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000861 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.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 -?/-? g.37089130A>G - MLH1_000012 rs35001569 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1852A>G, NM_001167617.1:c.1558A>G, NM_001167618.1:c.1129A>G, NM_001167619.1:c.1129A>G, NM_001258271.1:c.1852A>G, NM_001258273.1:c.1129A>G, NM_001258274.1:c.1129A>G r.(?) p.(Lys618Glu), p.(Lys520Glu), p.(Lys377Glu)
3 Parent #2 -/- g.37089131A>C - MLH1_000015 rs63750449 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1853A>C, NM_001167617.1:c.1559A>C, NM_001167618.1:c.1130A>C, NM_001167619.1:c.1130A>C, NM_001258271.1:c.1853A>C, NM_001258273.1:c.1130A>C, NM_001258274.1:c.1130A>C r.(?) p.(Lys618Thr), p.(Lys520Thr), p.(Lys377Thr)
7 Parent #2 ?/? g.148515075C>T - EZH2_000032 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1119G>A, NM_001203248.1:c.1092G>A, NM_001203249.1:c.1092G>A, NM_004456.4:c.1134G>A, NM_152998.2:c.1002G>A r.(=) p.(=)
8 Parent #2 -?/-? g.31004638G>A - WRN_000036 rs144116311 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3453G>A r.(=) p.(=)
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
13 Parent #2 ?/? g.48916698T>C - RB1_000045 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.265-37T>C r.(=) p.(=)
13 Parent #2 ?/? g.103518949C>T - ERCC5_000029 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2320-33C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
18 Parent #2 -?/-? g.48573644A>G - SMAD4_000015 rs587780556 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.228A>G r.(=) p.(=)
19 Parent #2 -?/-? g.1219422C>T - STK11_000028 rs587782445 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.464+10C>T r.(=) p.(=)
X Parent #2 ?/? g.133087288C>T - GPC3_000012 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.176-50G>A, NM_001164618.1:c.176-50G>A, NM_001164619.1:c.175+32014G>A, NM_004484.3:c.176-50G>A r.(=) p.(=)
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