Individual #00020433

Reference -
Gender M
Geographic origin Kefalonia
Geographic origin Patras
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     
0000012958 55y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001643 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     
3 Parent #2 ?/? g.10127561G>A - FANCD2_000094 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3290G>A, NM_033084.3:c.3290G>A r.(?) p.(Arg1097Gln)
3 Parent #2 ./. g.114362805T>C - chr3_000005 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 +?/+? g.176562167del - NSD1_000083 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.63del, NM_172349.2:c.-5del r.(?), r.(=) p.(Leu22*), p.(=)
8 Parent #2 ?/? g.30969150C>G - WRN_000062 rs201384942 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2108C>G r.(?) p.(Thr703Ser)
8 Parent #2 ?/? g.145737039G>C - RECQL4_000079 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3503+25C>G - p.?
11 Parent #2 ?/? g.532596G>A - HRAS_000008 rs45524036 - Germline - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.*40C>T, NM_005343.2:c.*5+35C>T, NM_176795.3:c.*179C>T r.(=) p.(=)
12 Parent #2 ./. g.112645381T>C - chr12_000006 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.89845340C>T - FANCA_000182 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1776+11G>A r.(=) p.(=)
Legend