Individual #00021330

Reference -
Gender F
Geographic origin ┬áIoannina
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013824 63y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000845 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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     
2 Parent #2 ?/? g.29450572G>C - ALK_000057 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2816-34C>G r.(=) p.(=)
3 Parent #2 ./. g.114362805T>C - chr3_000005 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ./. g.189401777G>C - chr3_000003 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.6043454T>A - PMS2_000068 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.251-31A>T r.(=) p.(=)
7 Parent #2 ?/? g.55221863G>T - EGFR_000002 rs41323746 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.889+18G>T, NM_201282.1:c.889+18G>T, NM_201283.1:c.889+18G>T, NM_201284.1:c.889+18G>T r.(=) p.(=)
9 Parent #2 -/- g.98209458G>A - PTCH1_000050 rs62637631 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4080C>T, NM_001083602.1:c.3882C>T, NM_001083603.1:c.4077C>T, NM_001083604.1:c.3627C>T, NM_001083605.1:c.3627C>T, NM_001083606.1:c.3627C>T, NM_001083607.1:c.3627C>T r.(=) p.(=)
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
10 Parent #2 +?/+? g.72360499G>A - PRF1_000024 rs200430442 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.160C>T, NM_005041.4:c.160C>T r.(?) p.(Arg54Cys)
16 Parent #2 -/- g.2133701G>A - TSC2_000071 rs45517319 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3889G>A, NM_001077183.1:c.3688G>A, NM_001114382.1:c.3820G>A r.(?) p.(Ala1297Thr), p.(Ala1230Thr), p.(Ala1274Thr)
17 Parent #2 -?/-? g.41199745A>T - BRCA1_000077 rs758780152 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5407-25T>A, NM_007297.3:c.5266-25T>A, NM_007298.3:c.2095-25T>A, NM_007299.3:c.2021-25T>A, NM_007300.3:c.5470-25T>A r.(=) p.(=)
22 Parent #2 -?/-? g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1340+8G>T, NM_016418.5:c.1340+8G>T, NM_181825.2:c.1340+8G>T, NM_181828.2:c.1214+8G>T, NM_181829.2:c.1217+8G>T, NM_181830.2:c.1091+8G>T, NM_181831.2:c.1091+8G>T, NM_181832.2:c.1340+8G>T, NM_181833.2:c.448-21258G>T r.(=) p.(=)
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