Individual #00017431

Reference -
Gender F
Geographic origin Vavouri, Thesprotia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000009898 48y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001099 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145G>A, NM_001048172.1:c.1106G>A, NM_001048173.1:c.1103G>A, NM_001048174.1:c.1103G>A, NM_001128425.1:c.1187G>A, NM_012222.2:c.1178G>A r.(?) p.(Gly382Asp), p.(Gly369Asp), p.(Gly368Asp), p.(Gly396Asp), p.(Gly393Asp)
2 Parent #2 ?/? g.58459258T>C - FANCL_000021 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.97-11A>G, NM_018062.3:c.97-11A>G r.(=) p.(=)
2 Parent #2 -/- g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.410A>G, NM_001257282.1:c.410A>G, NM_152383.4:c.410A>G r.(?) p.(Tyr137Cys)
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
7 Parent #2 ?/? g.55273231G>C - EGFR_000051 rs746585833 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3554G>C r.(?) p.(Gly1185Ala)
8 Parent #2 ?/? g.90958545T>C - NBN_000037 - - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1915-22A>G r.(=) p.(=)
8 Parent #2 ?/? g.145737326C>T - RECQL4_000134 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3362G>A - p.?
9 Parent #2 -/- g.98209458G>A - PTCH1_000050 rs62637631 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4080C>T, NM_001083602.1:c.3882C>T, NM_001083603.1:c.4077C>T, NM_001083604.1:c.3627C>T, NM_001083605.1:c.3627C>T, NM_001083606.1:c.3627C>T, NM_001083607.1:c.3627C>T r.(=) p.(=)
10 Parent #2 ?/? g.43602066G>A - RET_000052 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1063+47G>A, NM_020975.4:c.1063+47G>A r.(=) p.(=)
10 Parent #2 ?/? g.72357763A>G - PRF1_000016 rs140956842 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
11 Parent #2 ?/? g.95523830C>A - CEP57_000025 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.-104C>A, NM_001243777.1:c.-33C>A, NM_014679.4:c.-33C>A r.(=) p.(=)
14 Parent #2 ?/? g.45609786T>C - FANCM_000077 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.682-49T>C r.(=) p.(=)
16 Parent #2 ?/? g.2105571C>T - TSC2_000008 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.599+51C>T, NM_001077183.1:c.599+51C>T, NM_001114382.1:c.599+51C>T r.(=) p.(=)
16 Parent #2 ?/? g.89805950C>G - FANCA_000132 rs1178460453 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3946G>C r.(?) p.(Gly1316Arg)
16 Parent #2 ?/? g.89815201G>A - FANCA_000039 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ?/? g.89831482_89831483del - FANCA_000043 rs577636020 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
17 Parent #2 +/+ g.41243844_41243848del - BRCA1_000046 rs80357609 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3700_3704del, NM_007297.3:c.3559_3563del, NM_007298.3:c.788-799_788-795del, NM_007299.3:c.788-799_788-795del, NM_007300.3:c.3700_3704del r.(?), r.(=) p.(Val1234Glnfs*8), p.(Val1187Glnfs*8), p.(=)
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