Individual #00020801

Reference -
Gender F
Geographic origin Smyrna
Geographic origin Agrinio
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BKT
Owner name Despoina Kalfakakou


Phenotypes

Benign kidney tumor (BKT)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012596 0y Kidney, Cystic Nephroma - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001492 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.190718999C>T - PMS1_000011 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1001C>T, NM_001128143.1:c.884C>T, NM_001128144.1:c.1001C>T r.(?) p.(Thr334Met), p.(Thr295Met)
5 Parent #2 ./. g.112128202A>G - APC_000009 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.705A>G, NM_001127510.2:c.705A>G, NM_001127511.2:c.676-8774A>G r.(=) p.(=)
5 Parent #2 ./. g.112179707C>G - APC_000094 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.8416C>G, NM_001127510.2:c.8416C>G, NM_001127511.2:c.8362C>G r.(?) p.(Pro2806Ala), p.(Pro2788Ala)
6 Parent #2 ./. g.35434010C>T - FANCE_000005 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1510-11C>T r.(=) p.(=)
7 Parent #2 ./. g.55266456C>T - EGFR_000060 rs41396448 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2748C>T r.(=) p.(=)
10 Parent #2 ./. g.72360283G>A - PRF1_000036 rs34279237 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.376C>T, NM_005041.4:c.376C>T r.(?) p.(Arg126Cys)
15 Parent #2 ./. g.40476108G>A - BUB1B_000053 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.751+24G>A r.(=) p.(=)
15 Parent #2 ./. g.89838176T>G - FANCI_000010 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
15 Parent #2 ./. g.89848301T>C - FANCI_000105 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3059-45T>C, NM_018193.2:c.2879-45T>C r.(=) p.(=)
16 Parent #2 ./. g.2129102C>T - TSC2_000064 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3036C>T, NM_001077183.1:c.2904C>T, NM_001114382.1:c.3036C>T r.(=) p.(=)
16 Parent #2 ./. g.2134754C>T - TSC2_000251 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4493+38C>T, NM_001077183.1:c.4292+38C>T, NM_001114382.1:c.4424+38C>T r.(=) p.(=)
X Parent #2 ./. g.132887665A>G - GPC3_000020 rs61754633 - - - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.876T>C, NM_001164618.1:c.828T>C, NM_001164619.1:c.714T>C, NM_004484.3:c.876T>C r.(=) p.(=)
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