Individual #00020554

Reference -
Gender M
Geographic origin Karditsa
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     
0000013049 57y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001440 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.241665777C>G - FH_000037 rs1573879289 - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.1202G>C r.(?) p.(Gly401Ala)
2 Parent #2 ./. g.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 -?/-? g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.183C>G, NM_198156.2:c.183C>G r.(=) p.(=)
8 Parent #2 -?/-? g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1779C>T r.(=) p.(=)
16 Parent #2 ?/? g.3641280C>T - SLX4_000043 rs140600202 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2359G>A r.(?) p.(Glu787Lys)
16 Parent #2 -?/-? g.3658881G>A - SLX4_000080 rs144832924 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.85C>T r.(?) p.(Arg29Cys)
16 Parent #2 -/- g.23635370C>T - PALB2_000002 rs45624036 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2794G>A r.(?) p.(Val932Met)
22 Parent #2 -?/-? g.24145622C>T - SMARCB1_000001 rs184021903 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.601+13C>T, NM_003073.3:c.628+13C>T r.(=) p.(=)
Legend