Individual #00021023

Reference -
Gender F
Geographic origin -
Geographic origin -
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     
0000013912 68y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000018 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.241663903_241663904del - FH_000005 rs144131869 - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.1237-14_1237-13del r.(=) p.(=)
1 Parent #1 ?/? g.241663904_241663905insGAGA - FH_000006 rs144131869 - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.1237-15_1237-14insTCTC r.(=) p.(=)
3 Parent #2 -/- g.37061893T>C - MLH1_000017 rs63751049 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.977T>C, NM_001167617.1:c.683T>C, NM_001167618.1:c.254T>C, NM_001167619.1:c.254T>C, NM_001258271.1:c.977T>C, NM_001258273.1:c.254T>C, NM_001258274.1:c.254T>C r.(?) p.(Val326Ala), p.(Val228Ala), p.(Val85Ala)
5 Parent #2 -?/-? g.112179359G>A - APC_000004 rs140868933 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.8068G>A, NM_001127510.2:c.8068G>A, NM_001127511.2:c.8014G>A r.(?) p.(Ala2690Thr), p.(Ala2672Thr)
6 Parent #2 ./. g.29906709G>C - chr6_000023 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 ./. g.22033388T>C - chr9_000005 - - - - - - - Despoina Kalfakakou - - - -
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)
11 Parent #2 ?/? g.44253871G>A - EXT2_000006 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1762-32G>A, NM_001178083.1:c.1693-32G>A, NM_207122.1:c.1663-32G>A r.(=) p.(=)
11 Parent #2 -?/-? g.64572650G>T - MEN1_000004 rs770037856 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1221C>A, NM_130799.2:c.1206C>A, NM_130800.2:c.1221C>A, NM_130801.2:c.1221C>A, NM_130802.2:c.1221C>A, NM_130803.2:c.1221C>A, NM_130804.2:c.1221C>A r.(=) p.(=)
13 Parent #2 -/- g.32914814C>T - BRCA2_000004 rs55794205 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6322C>T r.(?) p.(Arg2108Cys)
16 Parent #2 -?/-? g.2129639T>C - TSC2_000024 rs778352969 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3366T>C, NM_001077183.1:c.3234T>C, NM_001114382.1:c.3366T>C r.(=) p.(=)
16 Parent #2 -?/-? g.89877421G>A - FANCA_000010 rs777989691 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.342C>T, NM_001018112.1:c.342C>T r.(=) p.(=)
19 Parent #2 -?/-? g.1221961C>T - STK11_000003 rs148928808 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.876C>T r.(=) p.(=)
Legend