Individual #00020768

Reference -
Gender M
Geographic origin Chalkidiki
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases AoVCa
Owner name Despoina Kalfakakou


Phenotypes

Ampulla of Vater cancer (AoVCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Stage     

Subtype     

Owner     
0000012546 38y - - - III Positive IV Intestinal Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001428 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.190717481T>A - PMS1_000045 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.800T>A, NM_001128143.1:c.683T>A, NM_001128144.1:c.800T>A r.(?) p.(Val267Glu), p.(Val228Glu)
7 Parent #2 ./. g.55214320G>A - EGFR_000048 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.446G>A, NM_201282.1:c.446G>A, NM_201283.1:c.446G>A, NM_201284.1:c.446G>A r.(?) p.(Arg149Gln)
8 Parent #2 ./. g.145738410_145738411insGGTGCA - RECQL4_000103 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2575_2576insTGCACC - p.?
8 Parent #2 ./. g.145738582_145738583del - RECQL4_000060 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+18_2464+19del - p.?
8 Parent #1 ./. g.145738583dup - RECQL4_000061 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+18dup - p.?
8 Parent #2 ./. g.145739817G>A - RECQL4_000108 rs35876881 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1704+9C>T - p.?
8 Parent #2 ./. g.145742850T>C - RECQL4_000100 rs35198096 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.161A>G - p.?
9 Parent #2 ./. g.98244530G>C - PTCH1_000092 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.585-45C>G, NM_001083602.1:c.387-45C>G, NM_001083603.1:c.582-45C>G, NM_001083604.1:c.132-45C>G, NM_001083605.1:c.132-45C>G, NM_001083606.1:c.132-45C>G, NM_001083607.1:c.132-45C>G r.(=) p.(=)
11 Parent #2 ./. g.108123551C>T - ATM_000024 rs2227922 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1810C>T r.(?) p.(Pro604Ser)
14 Parent #2 ./. g.45650751A>C - FANCM_000027 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4317+24A>C r.(=) p.(=)
22 Parent #2 ./. g.24145459T>G - SMARCB1_000006 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.474-23T>G, NM_003073.3:c.501-23T>G r.(=) p.(=)
Legend