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     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012546 38y - - 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.
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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     
2 Parent #2 ?/? g.190717481T>A - PMS1_000045 - - Germline - - - - 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 rs759532524 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2575_2576insTGCACC - p.?
8 Parent #2 ?/? g.145738582_145738583del - RECQL4_000060 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+18_2464+19del - p.?
8 Parent #1 ?/? g.145738583dup - RECQL4_000061 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+18dup - p.?
8 Parent #2 -/- g.145739817G>A - RECQL4_000108 rs35876881 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1704+9C>T - p.?
8 Parent #2 -/- g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.161A>G - p.?
9 Parent #2 ?/? g.98244530G>C - PTCH1_000092 rs191283926 - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1810C>T r.(?) p.(Pro604Ser)
14 Parent #2 ?/? g.45650751A>C - FANCM_000027 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4317+24A>C r.(=) p.(=)
22 Parent #2 ?/? g.24145459T>G - SMARCB1_000006 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.474-23T>G, NM_003073.3:c.501-23T>G r.(=) p.(=)
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