Individual #00020908

Reference -
Gender M
Geographic origin Paramythia, Thesprotia
Geographic origin Magoula, Laconia
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases LuCa, RCC, TRC
Owner name Despoina Kalfakakou


Phenotypes

Lung Cancer (LuCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

Subtype     

Owner     
0000012783 63y - - - II - II - Despoina Kalfakakou

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012781 65y - - - III - - - Papillary Despoina Kalfakakou
0000012782 58y - - - III - Clear-cell - - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

Subtype     

Owner     
0000012780 65y - - - - - - Papillary Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001572 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.45797548C>T - MUTYH_000045 - - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.956-27G>A, NM_001048172.1:c.917-27G>A, NM_001048173.1:c.914-27G>A, NM_001048174.1:c.914-27G>A, NM_001128425.1:c.998-27G>A, NM_012222.2:c.989-27G>A r.(=) p.(=)
3 Parent #2 ./. g.14190050del - XPC_000020 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2309+12del, NM_004628.4:c.2420+12del r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112151309C>T - APC_000096 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.933+19C>T, NM_001127510.2:c.933+19C>T, NM_001127511.2:c.879+19C>T r.(=) p.(=)
5 Parent #2 ./. g.176636921A>C - NSD1_000082 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1521A>C, NM_172349.2:c.714A>C r.(?) p.(Lys507Asn), p.(Lys238Asn)
5 Parent #2 ./. g.176638944A>T - NSD1_000075 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.3544A>T, NM_172349.2:c.2737A>T r.(?) p.(Asn1182Tyr), p.(Asn913Tyr)
11 Parent #2 ./. g.95562311C>T - CEP57_000001 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.1101-40C>T, NM_001243777.1:c.1050-40C>T, NM_014679.4:c.1128-40C>T r.(=) p.(=)
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
19 Parent #2 ./. g.45856315G>A - ERCC2_000058 rs3916878 - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1831+26C>T r.(=) p.(=)
22 Parent #2 ./. g.29121265C>T - CHEK2_000008 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.539G>A, NM_001257387.1:c.-368G>A, NM_007194.3:c.410G>A, NM_145862.2:c.410G>A r.(=), r.(?) p.(Arg180Gln), p.(=), p.(Arg137Gln)
22 Parent #2 ./. g.29130534G>A - CHEK2_000067 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.176C>T, NM_001257387.1:c.-602C>T, NM_007194.3:c.176C>T, NM_145862.2:c.176C>T r.(=), r.(?) p.(=), p.(Thr59Ile)
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