Individual #00014967

Reference -
Gender F
Geographic origin Drama
Geographic origin -
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     

BRCA/FH     

Subtype     

Owner     
0000010759 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001658 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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     
2 Parent #2 ?/? g.29416152C>T - ALK_000028 rs376702277 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4801G>A r.(?) p.(Ala1601Thr)
3 Both (homozygous) -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
3 Parent #2 ./. g.128038357T>C - chr3_000028 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -/- g.43614965C>A - RET_000084 rs144269978 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2393-14C>A, NM_020975.4:c.2393-14C>A r.(=) p.(=)
10 Parent #2 ?/? g.43619248C>G - RET_000014 rs375414982 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2931C>G, NM_020975.4:c.2931C>G r.(?) p.(Ser977Arg)
10 Parent #2 ./. g.51549533T>G - chr10_000002 rs41274660 - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -?/-? g.72360577G>A - PRF1_000009 rs141660796 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.82C>T, NM_005041.4:c.82C>T r.(?) p.(Arg28Cys)
11 Parent #2 -/- g.533546G>A - HRAS_000004 rs111352454 - Germline - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.357C>T, NM_005343.2:c.357C>T, NM_176795.3:c.357C>T r.(=) p.(=)
11 Parent #2 ?/? g.108180945G>C - ATM_000194 rs147187700 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5821G>C r.(?) p.(Val1941Leu)
15 Parent #2 -?/-? g.40453436G>A - BUB1B_000020 rs374433718 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.15G>A r.(=) p.(=)
15 Parent #2 ?/? g.40477327G>T - BUB1B_000013 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.752-39G>T r.(=) p.(=)
15 Parent #2 ?/? g.40494692T>G - BUB1B_000024 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1628+26T>G r.(=) p.(=)
16 Parent #2 -?/-? g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-15G>A, NM_001077183.1:c.3682+623G>A, NM_001114382.1:c.3814+623G>A r.(=) p.(=)
17 Parent #2 +/+ g.41228596del - BRCA1_000121 rs397507230 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4393del, NM_007297.3:c.4252del, NM_007298.3:c.1081del, NM_007299.3:c.1081del, NM_007300.3:c.4456del r.(?) p.(Ile1465*), p.(Ile1418*), p.(Ile361*), p.(Ile1486*)
17 Parent #2 ?/? g.41228598G>A - BRCA1_000122 rs587776464 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4391C>T, NM_007297.3:c.4250C>T, NM_007298.3:c.1079C>T, NM_007299.3:c.1079C>T, NM_007300.3:c.4454C>T r.(?) p.(Pro1464Leu), p.(Pro1417Leu), p.(Pro360Leu), p.(Pro1485Leu)
17 Parent #2 ?/? g.66511747T>G - PRKAR1A_000002 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.177+30T>G, NM_001276290.1:c.177+30T>G, NM_002734.4:c.177+30T>G, NM_212471.2:c.177+30T>G, NM_212472.2:c.177+30T>G r.(=) p.(=)
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