Individual #00016957

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000009249 53y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000725 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.128044616C>T - ERCC3_000004 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1028-23G>A r.(=) p.(=)
3 Parent #2 -?/-? g.37067100_37067101insA - MLH1_000014 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-28_1039-27insA, NM_001167617.1:c.745-28_745-27insA, NM_001167618.1:c.316-28_316-27insA, NM_001167619.1:c.316-28_316-27insA, NM_001258271.1:c.1039-28_1039-27insA, NM_001258273.1:c.316-28_316-27insA, NM_001258274.1:c.316-28_316-27insA r.(=) p.(=)
8 Parent #2 ./. g.71012788C>A - chr8_000010 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128424757G>T - chr8_000009 rs76573300 - - - - - - Despoina Kalfakakou - - - -
12 Parent #2 ?/? g.121435391C>A - HNF1A_000027 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1424C>A r.(?) p.(Pro475Gln)
13 Parent #2 ?/? g.103528113G>A - ERCC5_000041 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.3421G>A r.(?) p.(Gly1141Arg)
15 Parent #2 ./. g.78806072G>T - chr15_000002 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.78908082_78908084del - chr15_000005 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #1 ./. g.78908084dup - chr15_000003 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.29497013A>G - NF1_000191 rs587778552 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.584A>G, NM_001042492.2:c.584A>G, NM_001128147.2:c.584A>G r.(?) p.(Lys195Arg)
17 Parent #2 ?/? g.33428027A>T Konstanta et al (2018) RAD51D_000010 rs145309168 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.992T>A, NM_002878.3:c.932T>A, NM_133629.2:c.596T>A r.(?) p.(Ile331Asn), p.(Ile311Asn), p.(Ile199Asn)
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.(=)
17 Parent #2 -?/-? g.59886044C>T - BRIP1_000038 rs45512798 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.702G>A r.(=) p.(=)
17 Parent #2 -/- g.74469185C>T - RHBDF2_000007 rs138683747 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1812G>A, NM_024599.5:c.1899G>A r.(=) p.(=)
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