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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009249 53y - - Ductal Invasive III N/A Positive Negative Negative - - - 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.
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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     
1 Parent #2 ./. g.45797228C>T - MUTYH_000007 rs36053993 - - - - - - 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 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1028-23G>A r.(=) p.(=)
3 Parent #2 ./. g.37067100_37067101insA - MLH1_000014 rs57509953 - - - - - - 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 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1424C>A r.(?) p.(Pro475Gln)
13 Parent #2 ./. g.103528113G>A - ERCC5_000041 - - - - - - - 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 - - - - - - - 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 - RAD51D_000010 - - - - - - - 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 - - - - - - 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 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.702G>A r.(=) p.(=)
17 Parent #2 ./. g.74469185C>T - RHBDF2_000007 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1812G>A, NM_024599.5:c.1899G>A r.(=) p.(=)
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