Individual #00020431

Reference -
Gender F
Geographic origin Xanthi
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases PNCA2
Owner name Despoina Kalfakakou


Phenotypes

Pancreatic cancer 2 (PNCA2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012956 78y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001642 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
7 Parent #2 ./. g.50470580G>T - chr7_000010 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
11 Parent #2 -?/-? g.108098592T>C - ATM_000018 rs3218690 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.162T>C r.(=) p.(=)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 -?/-? g.89849522T>C - FANCA_000105 rs9282684 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1471-12A>G r.(=) p.(=)
17 Parent #2 ?/? g.17117196_17117197insA - FLCN_000048 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144997.5:c.1539-27_1539-26insT r.(=) p.(=)
17 Parent #2 -/- g.41243509T>C - BRCA1_000035 rs28897689 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4039A>G, NM_007297.3:c.3898A>G, NM_007298.3:c.788-460A>G, NM_007299.3:c.788-460A>G, NM_007300.3:c.4039A>G r.(?), r.(=) p.(Arg1347Gly), p.(Arg1300Gly), p.(=)
17 Parent #2 -?/-? g.59853755C>T - BRIP1_000022 rs4988352 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2097+7G>A r.(=) p.(=)
X Parent #2 -?/-? g.132887665A>G - GPC3_000020 rs61754633 - Germline - - - - 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.(=)
Legend