Individual #00017459

Reference -
Gender F
Geographic origin Germany
Geographic origin Ierapetra
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009930 44y - - Ductal In Situ I N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001121 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
3 Parent #2 ./. g.10106366T>C - FANCD2_000053 rs4019782 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2022-47T>C, NM_033084.3:c.2022-47T>C r.(=) p.(=)
3 Parent #2 ./. g.10188193G>A - VHL_000015 - - - - - - - Despoina Kalfakakou VHL - NM_000551.3:c.341-5G>A, NM_198156.2:c.341-3278G>A r.spl?, r.(=) p.?, p.(=)
7 Parent #2 ./. g.55248965C>T - EGFR_000037 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2284-21C>T r.(=) p.(=)
9 Parent #2 ./. g.21971188G>T - CDKN2A_000005 - - - - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.170C>A, NM_001195132.1:c.170C>A, NM_058195.3:c.213C>A, NM_058197.4:c.*93C>A r.(?), r.(=) p.(Ala57Asp), p.(=)
11 Parent #2 ./. g.22646984C>T - FANCF_000001 rs61752920 - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
11 Parent #2 ./. g.32456795C>G - WT1_000019 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.97G>C, NM_001198551.1:c.-4710G>C, NM_001198552.1:c.-4710G>C, NM_024424.3:c.97G>C, NM_024426.4:c.97G>C r.(?), r.(=) p.(Val33Leu), p.(=)
11 Parent #2 ./. g.108201023T>C - ATM_000148 rs55801750 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7390T>C r.(?) p.(Cys2464Arg)
14 Parent #2 ./. g.45658583G>A - FANCM_000074 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5340+18G>A r.(=) p.(=)
16 Parent #2 ./. g.2108847G>A - TSC2_000188 rs45517141 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.948G>A, NM_001077183.1:c.948G>A, NM_001114382.1:c.948G>A r.(=) p.(=)
16 Parent #2 ./. g.89816278G>T - FANCA_000109 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3099C>A r.(?) p.(Asp1033Glu)
17 Parent #2 ./. g.25541286T>C - chr17_000023 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.33430464A>G - RAD51D_000015 - - - - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.727+9T>C, NM_002878.3:c.667+9T>C, NM_133629.2:c.331+9T>C r.(=) p.(=)
17 Parent #2 ./. g.59763200T>C - BRIP1_000035 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2902A>G r.(?) p.(Lys968Glu)
Legend