Individual #00020102

Reference -
Gender F
Geographic origin Arcadia
Geographic origin Athens
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     
0000012382 30y - - - I - Endometrioid - - Despoina Kalfakakou

Endometrial polyps (EnPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012381 30y - - - Adenomatous Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001397 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
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.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)
1 Parent #2 ./. g.161326564C>T - SDHC_000016 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5555C>T, NM_001035512.1:c.237C>T, NM_001035513.1:c.180C>T, NM_001278172.1:c.140-5555C>T, NM_003001.3:c.339C>T r.(=) p.(=)
2 Parent #2 ./. g.29445192G>A - ALK_000008 rs79325200 - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3515+18C>T r.(=) p.(=)
3 Parent #2 ./. g.17077243C>G - chr3_000026 - - - - - - - Despoina Kalfakakou - - - -
3 Both (homozygous) ./. g.37067098_37067104del - MLH1_000043 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-30_1039-24del, NM_001167617.1:c.745-30_745-24del, NM_001167618.1:c.316-30_316-24del, NM_001167619.1:c.316-30_316-24del, NM_001258271.1:c.1039-30_1039-24del, NM_001258273.1:c.316-30_316-24del, NM_001258274.1:c.316-30_316-24del r.(=) p.(=)
3 Parent #2 ./. g.128199935G>A - GATA2_000012 - - - - - - - Despoina Kalfakakou GATA2 - NM_001145661.1:c.1370C>T, NM_001145662.1:c.1328C>T, NM_032638.4:c.1370C>T r.(?) p.(Thr457Met), p.(Thr443Met)
8 Parent #2 ./. g.30916099A>T - WRN_000088 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.96+40A>T r.(=) p.(=)
16 Parent #2 ./. g.68853134A>G - CDH1_000023 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1566-49A>G r.(=) p.(=)
17 Parent #2 ./. g.41243509T>C - BRCA1_000035 rs28897689 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4039A>G, NM_007297.3:c.3898A>G, NM_007298.3:c.788-460A>G, NM_007299.3:c.788-460A>G, NM_007300.3:c.4039A>G r.(?), r.(=) p.(Arg1347Gly), p.(Arg1300Gly), p.(=)
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