Individual #00020406

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Grevena
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     
0000012907 57y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001614 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.14208787G>C - XPC_000016 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.426-34C>G, NM_004628.4:c.537-34C>G r.(=) p.(=)
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 -?/-? g.112176565T>A - APC_000001 rs199600387 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5274T>A, NM_001127510.2:c.5274T>A, NM_001127511.2:c.5220T>A r.(=) p.(=)
8 Parent #2 -?/-? g.90993640C>T - NBN_000012 rs61753720 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.283G>A r.(?) p.(Asp95Asn)
8 Parent #2 ?/? g.145737131C>G - RECQL4_000120 rs61755066 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3436G>C - p.?
11 Parent #2 ?/? g.108178702G>C - ATM_000186 rs148064985 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5753G>C r.(?) p.(Arg1918Thr)
15 Parent #2 ?/? g.91312636G>A - BLM_000085 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2407-32G>A r.(=) p.(=)
16 Parent #2 -/- g.2103368C>T - TSC2_000084 rs35660529 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.251C>T, NM_001077183.1:c.251C>T, NM_001114382.1:c.251C>T r.(?) p.(Ala84Val)
19 Parent #2 ?/? g.1226569C>T - STK11_000014 rs368466538 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.1225C>T r.(?) p.(Arg409Trp)
Legend