Individual #00020407

Reference -
Gender M
Geographic origin Leros
Geographic origin Pigi, Crete
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     
0000012911 77y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001616 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.6017317C>T - PMS2_000088 rs553286217 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2347G>A r.(?) p.(Val783Ile)
8 Parent #2 ?/? g.145736954_145736955insAC - RECQL4_000033 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3504-17_3504-16insGT - p.?
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
11 Parent #2 ?/? g.44135827T>C - EXT2_000044 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.818T>C, NM_001178083.1:c.719T>C, NM_207122.1:c.719T>C r.(?) p.(Val273Ala), p.(Val240Ala)
11 Parent #2 ?/? g.108137984T>G - ATM_000185 rs1064793513 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2553T>G r.(?) p.(Asp851Glu)
12 Parent #2 ./. g.125320806C>T - chr12_000019 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.48878154G>C - RB1_000049 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.106G>C r.(?) p.(Asp36His)
19 Parent #2 ?/? g.45860705T>C - ERCC2_000032 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1377+27A>G, NM_001130867.1:c.*1413A>G r.(=) p.(=)
22 Parent #2 -?/-? g.30064348T>C - NF2_000030 rs200272173 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.912T>C, NM_016418.5:c.912T>C, NM_181825.2:c.912T>C, NM_181828.2:c.786T>C, NM_181829.2:c.789T>C, NM_181830.2:c.663T>C, NM_181831.2:c.663T>C, NM_181832.2:c.912T>C, NM_181833.2:c.447+26074T>C r.(=) p.(=)
Legend