Individual #00020124

Reference -
Gender F
Geographic origin Neochori, Laconia
Geographic origin Achladokampos, Argolis
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC, EnPol
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     
0000012412 56y - - - II Negative Endometrioid - - Despoina Kalfakakou

Endometrial polyps (EnPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012413 - - - - Adenomamyomatous Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001473 DNA SEQ-NG-I 1 - 24 Despoina Kalfakakou



Variants

24 entries on 1 page. Showing entries 1 - 24.
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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.161326475C>T - SDHC_000018 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5644C>T, NM_001035512.1:c.148C>T, NM_001035513.1:c.91C>T, NM_001278172.1:c.140-5644C>T, NM_003001.3:c.250C>T r.(=), r.(?) p.(=), p.(Leu50Phe), p.(Leu31Phe), p.(Leu84Phe)
1 Parent #2 ./. g.161326488C>A - SDHC_000019 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5631C>A, NM_001035512.1:c.161C>A, NM_001035513.1:c.104C>A, NM_001278172.1:c.140-5631C>A, NM_003001.3:c.263C>A r.(=), r.(?) p.(=), p.(Ser54*), p.(Ser35*), p.(Ser88*)
1 Parent #2 ./. g.161326498A>G - SDHC_000012 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5621A>G, NM_001035512.1:c.171A>G, NM_001035513.1:c.114A>G, NM_001278172.1:c.140-5621A>G, NM_003001.3:c.273A>G r.(=) p.(=)
1 Parent #2 ./. g.161326520T>A - SDHC_000013 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5599T>A, NM_001035512.1:c.193T>A, NM_001035513.1:c.136T>A, NM_001278172.1:c.140-5599T>A, NM_003001.3:c.295T>A r.(=), r.(?) p.(=), p.(Tyr65Asn), p.(Tyr46Asn), p.(Tyr99Asn)
1 Parent #2 ./. g.161326531T>C - SDHC_000014 rs11547241 - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5588T>C, NM_001035512.1:c.204T>C, NM_001035513.1:c.147T>C, NM_001278172.1:c.140-5588T>C, NM_003001.3:c.306T>C r.(=) p.(=)
1 Parent #2 ./. g.161326532G>C - SDHC_000015 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5587G>C, NM_001035512.1:c.205G>C, NM_001035513.1:c.148G>C, NM_001278172.1:c.140-5587G>C, NM_003001.3:c.307G>C r.(=), r.(?) p.(=), p.(Val69Leu), p.(Val50Leu), p.(Val103Leu)
2 Parent #2 ./. g.128017009C>T - ERCC3_000009 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
2 Parent #2 ./. g.128047101C>G - ERCC3_000005 rs4150413 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.658-24G>C r.(=) p.(=)
3 Parent #2 ./. g.14190132G>A - XPC_000031 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2239C>T, NM_004628.4:c.2350C>T r.(?) p.(Arg747Cys), p.(Arg784Cys)
3 Parent #2 ./. g.14193816_14193817insC - XPC_000022 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2004+18_2004+19insG, NM_004628.4:c.2115+18_2115+19insG r.(=) p.(=)
3 Parent #2 ./. g.14206880C>T - XPC_000015 rs3731112 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.668+48G>A, NM_004628.4:c.779+48G>A r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067102del - MLH1_000005 rs71831268 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
9 Parent #2 ./. g.98011497G>A - FANCC_000007 rs1800361 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.47256924G>A - DDB2_000023 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.984G>A r.(=) p.(=)
11 Parent #2 ./. g.56175696G>T - chr11_000032 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108098592T>C - ATM_000018 rs3218690 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.162T>C r.(=) p.(=)
13 Parent #2 ./. g.32972744_32972745insGAATTATATC - BRCA2_000144 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10094_10095insGAATTATATC r.(?) p.(Ser3366Asnfs*5)
13 Parent #2 ./. g.32972745C>T - BRCA2_000145 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10095C>T r.(=) p.(=)
13 Parent #2 ./. g.48954153C>A - RB1_000012 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
14 Parent #2 ./. g.45652950T>C - FANCM_000040 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4387-27T>C r.(=) p.(=)
16 Parent #2 ./. g.2125838G>A - TSC2_000137 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2584G>A, NM_001077183.1:c.2584G>A, NM_001114382.1:c.2584G>A r.(?) p.(Ala862Thr)
17 Parent #2 ./. g.56772522G>A - RAD51C_000007 rs61758784 - - - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 ./. g.56780540G>T - RAD51C_000004 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
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