Individual #00021855

Reference -
Gender F
Geographic origin Pontus
Geographic origin Thessaloniki
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     
0000013893 66y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002169 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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.29445462T>C - ALK_000116 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3371A>G r.(?) p.(His1124Arg)
3 Parent #2 ?/? g.10107690C>T - FANCD2_000146 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2385+27C>T, NM_033084.3:c.2385+27C>T r.(=) p.(=)
3 Parent #2 ?/? g.14206994G>T - XPC_000005 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.602C>A, NM_004628.4:c.713C>A r.(?) p.(Pro201Gln), p.(Pro238Gln)
10 Parent #2 ?/? g.43620336G>A - RET_000105 rs368550200 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2945G>A, NM_020975.4:c.2945G>A r.(?) p.(Arg982His)
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
15 Parent #2 ?/? g.91328234C>G - BLM_000106 rs1424143421 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2746C>G r.(?) p.(Leu916Val)
16 Parent #2 ?/? g.2137859G>A - TSC2_000308 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4990-5G>A, NM_001077183.1:c.4789-5G>A, NM_001114382.1:c.4921-5G>A r.spl? p.?
16 Parent #2 -/- g.89805125G>C - FANCA_000092 rs368506826 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4261-9C>G r.(=) p.(=)
16 Parent #2 ?/? g.89805745T>A - FANCA_000118 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4011-48A>T r.(=) p.(=)
16 Parent #2 -?/-? g.89882965C>T - FANCA_000111 rs376307136 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.59G>A, NM_001018112.1:c.59G>A r.(?) p.(Arg20Lys)
17 Parent #2 ./. g.58740532_58740533insA - chr17_000032 - - - - - - - Despoina Kalfakakou PPM1D - NM_003620.3:c.1437_1438insA r.(?) p.(Ala481Serfs*8)
19 Parent #2 ./. g.30296893C>T - chr19_000017 - - - - - - - Despoina Kalfakakou - - - -
19 Parent #2 -?/-? g.45860811G>A - ERCC2_000097 rs202146136 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1308-10C>T, NM_001130867.1:c.*1307C>T r.(=) p.(=)
X Parent #2 ?/? g.14876041A>T - FANCB_000017 - - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1140T>A, NM_152633.2:c.1140T>A r.(?) p.(Phe380Leu)
X Parent #2 -?/-? g.132670290C>T - GPC3_000023 rs767097459 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1674G>A, NM_001164618.1:c.1557G>A, NM_001164619.1:c.1443G>A, NM_004484.3:c.1605G>A r.(=) p.(=)
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