Individual #00020427

Reference -
Gender F
Geographic origin Smyrna, Asia Minor
Geographic origin Thiva
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     
0000012948 48y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001638 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
3 Parent #2 -/- g.10094159A>G - FANCD2_000019 rs145522204 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1634A>G, NM_033084.3:c.1634A>G r.(?) p.(Asn545Ser)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
10 Parent #2 ./. g.64278709del - chr10_000023 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ?/? g.45658083_45658085del - FANCM_000051 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4858_4860del r.(?) p.(Glu1622del)
16 Parent #2 ?/? g.2126039G>T - TSC2_000257 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2640-30G>T, NM_001077183.1:c.2640-30G>T, NM_001114382.1:c.2640-30G>T r.(=) p.(=)
16 Parent #2 -/- g.2133701G>A - TSC2_000071 rs45517319 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3889G>A, NM_001077183.1:c.3688G>A, NM_001114382.1:c.3820G>A r.(?) p.(Ala1297Thr), p.(Ala1230Thr), p.(Ala1274Thr)
16 Parent #2 -?/-? g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5383C>T, NM_001077183.1:c.5182C>T, NM_001114382.1:c.5314C>T r.(?) p.(Arg1795Cys), p.(Arg1728Cys), p.(Arg1772Cys)
17 Parent #2 ?/? g.29559977G>A - NF1_000262 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3497-43G>A, NM_001042492.2:c.3497-43G>A r.(=) p.(=)
17 Parent #2 -?/-? g.56772522G>A - RAD51C_000007 rs61758784 - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 -?/-? g.56780540G>T - RAD51C_000004 rs193023469 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
17 Parent #2 ?/? g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
X Parent #2 -/- g.14863136A>G - FANCB_000015 rs142959373 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1769T>C, NM_152633.2:c.1769T>C r.(?) p.(Phe590Ser)
Legend