Individual #00020571

Reference -
Gender M
Geographic origin Kalamata
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases RCC
Owner name Despoina Kalfakakou


Phenotypes

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013096 37y - - Papillary Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001464 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.48025738C>T - MSH6_000072 rs752105994 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.628-12C>T, NM_001281492.1:c.238-12C>T, NM_001281493.1:c.-279-12C>T, NM_001281494.1:c.-275-16C>T r.(=) p.(=)
2 Parent #2 ?/? g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1609G>A, NM_001128143.1:c.1492G>A, NM_001128144.1:c.1609G>A r.(?) p.(Glu537Lys), p.(Glu498Lys)
5 Parent #2 ./. g.1279814_1279815del - chr5_000040 rs35278664 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 -/- g.112173250G>A - APC_000010 rs72541809 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
7 Parent #2 -?/-? g.6042144C>T - PMS2_000084 rs147701251 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.477G>A r.(=) p.(=)
7 Parent #2 ?/? g.116418845G>C - MET_000028 rs201037977 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3356G>C, NM_001127500.1:c.3410G>C r.(?) p.(Gly1119Ala), p.(Gly1137Ala)
16 Parent #2 ?/? g.3640323C>T - SLX4_000033 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3316G>A r.(?) p.(Val1106Met)
16 Parent #2 ?/? g.89815201G>A - FANCA_000039 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ?/? g.89825138A>G - FANCA_000084 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2853-25T>C r.(=) p.(=)
16 Parent #2 ?/? g.89831482_89831483del - FANCA_000043 rs577636020 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
Legend