Individual #00021854

Reference -
Gender F
Geographic origin Lesbos
Geographic origin Crete
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000013818 62y - - - - - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013680 56y - - III Clear-cell - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002168 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.17354374_17354379del - SDHB_000002 rs34261028 - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-19_424-14del r.(=) p.(=)
3 Parent #2 ./. g.10137969G>T - FANCD2_000145 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.4039-41G>T, NM_033084.3:c.4039-41G>T r.(=) p.(=)
3 Parent #2 ./. g.37067098_37067102del - MLH1_000006 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-30_1039-26del, NM_001167617.1:c.745-30_745-26del, NM_001167618.1:c.316-30_316-26del, NM_001167619.1:c.316-30_316-26del, NM_001258271.1:c.1039-30_1039-26del, NM_001258273.1:c.316-30_316-26del, NM_001258274.1:c.316-30_316-26del r.(=) p.(=)
5 Parent #2 ./. g.176671297C>T - NSD1_000018 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4378+26C>T, NM_172349.2:c.3571+26C>T r.(=) p.(=)
8 Parent #2 ./. g.145737022C>T - RECQL4_000095 rs35412242 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3503+42G>A - p.?
8 Parent #2 ./. g.145737373C>T - RECQL4_000021 rs36078464 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3315G>A - p.?
8 Parent #2 ./. g.145738257C>T - RECQL4_000213 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2729G>A - p.?
9 Parent #2 ./. g.35074518T>C - FANCG_000039 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1637-27A>G r.(=) p.(=)
9 Parent #2 ./. g.100459453G>A - XPA_000001 - - - - - - - Despoina Kalfakakou XPA - NM_000380.3:c.122C>T r.(?) p.(Ala41Val)
16 Parent #2 ./. g.2133726C>T - TSC2_000139 rs45517320 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3914C>T, NM_001077183.1:c.3713C>T, NM_001114382.1:c.3845C>T r.(?) p.(Pro1305Leu), p.(Pro1238Leu), p.(Pro1282Leu)
16 Parent #2 ./. g.3651144G>A - SLX4_000163 rs7198338 - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.999C>T r.(=) p.(=)
17 Parent #2 ./. g.59876610G>A - BRIP1_000077 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1191C>T r.(=) p.(=)
17 Parent #2 ./. g.74470000A>T - RHBDF2_000013 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1575-16T>A, NM_024599.5:c.1662-16T>A r.(=) p.(=)
X Parent #2 ./. g.14868839G>A - FANCB_000003 - - - - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1327-43C>T, NM_152633.2:c.1327-43C>T r.(=) p.(=)
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