Individual #00020394

Reference -
Gender F
Geographic origin Molos, Phocis
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     
0000012863 63y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001598 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     
2 Parent #2 -/- g.128016978G>A - ERCC3_000015 rs4150521 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2111C>T r.(?) p.(Ser704Leu)
2 Parent #2 ?/? g.233195514C>G - DIS3L2_000013 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
3 Parent #2 ?/? g.10105445A>G - FANCD2_000116 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1828-31A>G, NM_033084.3:c.1828-31A>G r.(=) p.(=)
10 Both (homozygous) ?/? g.72360605G>A - PRF1_000011 rs762553478 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.54C>T, NM_005041.4:c.54C>T r.(=) p.(=)
11 Parent #2 ?/? g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
16 Parent #2 ?/? g.3647391G>A - SLX4_000036 rs372264472 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1672C>T r.(?) p.(Arg558Trp)
16 Parent #2 ?/? g.89862351G>C - FANCA_000048 rs747408661 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.969C>G, NM_001018112.1:c.*3136C>G r.(=) p.(=)
16 Parent #2 ?/? g.89882407G>A - FANCA_000011 rs189841793 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
Legend