Individual #00020782

Reference -
Gender F
Geographic origin Epiniana, Evrytania
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases HMGM, Pheo, PNCA2, RCC
Owner name Despoina Kalfakakou


Phenotypes

Pancreatic cancer 2 (PNCA2)   Add phenotype for this disease

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0000012575 52y Pancreatic Neuroendocrine Tumor (PNET) - - I - - - Despoina Kalfakakou

Renal cell carcinoma (RCC)   Add phenotype for this disease

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LN     

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0000012573 52y - - - II - Clear-cell - - Despoina Kalfakakou

Pheochromocytoma, susceptibility to (Pheo)   Add phenotype for this disease

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0000012576 52y Adrenal Gland - - - Despoina Kalfakakou

Hemangioma¬† (HMGM)   Add phenotype for this disease

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0000012574 52y Liver - - - Despoina Kalfakakou



Screenings


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Owner     
0000001466 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Also Known As     

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Is Greek Founder     

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Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #2 ./. g.233128020C>A - DIS3L2_000080 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1529C>A, NM_152383.4:c.1529C>A r.(?) p.(Ala510Glu)
8 Parent #2 ./. g.145738886G>A - RECQL4_000008 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2201-22C>T - p.?
8 Parent #2 ./. g.145740622C>T - RECQL4_000022 rs34948955 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1395G>A - p.?
9 Parent #2 ./. g.35075703A>G - FANCG_000012 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1192T>C r.(=) p.(=)
9 Parent #2 ./. g.98209585G>A - PTCH1_000039 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3953C>T, NM_001083602.1:c.3755C>T, NM_001083603.1:c.3950C>T, NM_001083604.1:c.3500C>T, NM_001083605.1:c.3500C>T, NM_001083606.1:c.3500C>T, NM_001083607.1:c.3500C>T r.(?) p.(Pro1318Leu), p.(Pro1252Leu), p.(Pro1317Leu), p.(Pro1167Leu)
11 Parent #2 ./. g.44129250T>C - EXT2_000040 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.87T>C, NM_001178083.1:c.-13T>C, NM_207122.1:c.-13T>C r.(=) p.(=)
11 Parent #2 ./. g.61197591C>A - SDHAF2_000009 - - - - - - - Despoina Kalfakakou SDHAF2 - NM_017841.2:c.-28C>A r.(=) p.(=)
15 Parent #2 ./. g.91347634C>A - BLM_000080 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3751+45C>A r.(=) p.(=)
16 Parent #2 ./. g.2124302C>T - TSC2_000248 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2457C>T, NM_001077183.1:c.2457C>T, NM_001114382.1:c.2457C>T r.(=) p.(=)
16 Parent #2 ./. g.89836359G>A - FANCA_000018 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2390C>T r.(?) p.(Ala797Val)
17 Parent #2 ./. g.33433488G>A - RAD51D_000021 - - - - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.553C>T, NM_002878.3:c.493C>T, NM_133629.2:c.157C>T r.(?) p.(Arg185Trp), p.(Arg165Trp), p.(Arg53Trp)
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