Individual #00017026

Reference -
Gender F
Geographic origin Sitia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, FM-SR
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     
0000009356 35y - - - - Despoina Kalfakakou

Fibromyxoid Sarcoma (FM-SR)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009357 32y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000774 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
6 Parent #2 ./. g.29906709G>C - chr6_000023 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ?/? g.43612225G>C - RET_000043 rs147601354 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2284+46G>C, NM_020975.4:c.2284+46G>C r.(=) p.(=)
11 Parent #2 ?/? g.95552112G>A - CEP57_000018 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.672+44G>A, NM_001243777.1:c.699+44G>A, NM_014679.4:c.699+44G>A r.(=) p.(=)
13 Parent #2 -?/-? g.48878161G>A - RB1_000025 rs766529534 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.113G>A r.(?) p.(Gly38Asp)
15 Parent #2 ?/? g.40489010C>A - BUB1B_000033 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1288+35C>A r.(=) p.(=)
15 Parent #2 ?/? g.40489017G>A - BUB1B_000034 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1288+42G>A r.(=) p.(=)
16 Parent #2 ?/? g.2106709T>C - TSC2_000145 Crs768623382 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.713T>C, NM_001077183.1:c.713T>C, NM_001114382.1:c.713T>C r.(?) p.(Leu238Pro)
16 Parent #2 ?/? g.3646412G>A - SLX4_000068 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1684-18C>T r.(=) p.(=)
17 Parent #2 -?/-? g.7579642C>T - TP53_000011 - - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.97-52G>A, NM_001126112.2:c.97-52G>A, NM_001126113.2:c.97-52G>A, NM_001126114.2:c.97-52G>A, NM_001126115.1:c.-1109G>A, NM_001126116.1:c.-1109G>A, NM_001126117.1:c.-1109G>A, NM_001126118.1:c.-21-52G>A, NM_001276695.1:c.-21-52G>A, NM_001276696.1:c.-21-52G>A, NM_001276697.1:c.-1190G>A, NM_001276698.1:c.-1190G>A, NM_001276699.1:c.-1190G>A, NM_001276760.1:c.-21-52G>A, NM_001276761.1:c.-21-52G>A r.(=) p.(=)
22 Parent #2 ?/? g.30074162A>T - NF2_000023 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1447-23A>T, NM_016418.5:c.1447-23A>T, NM_181825.2:c.1447-23A>T, NM_181828.2:c.1321-23A>T, NM_181829.2:c.1324-23A>T, NM_181830.2:c.1198-23A>T, NM_181831.2:c.1198-23A>T, NM_181832.2:c.1447-23A>T, NM_181833.2:c.448-16579A>T r.(=) p.(=)
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