Individual #00020781

Reference -
Gender M
Geographic origin Mitilini
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Epend, OC
Owner name Despoina Kalfakakou


Phenotypes

Ependymoma (Epend)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012571 17y Spinal Cord - - Myxopapillary Despoina Kalfakakou

Osteochondroma (OC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Subtype     

Owner     
0000012572 15y - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001460 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47635667G>A - MSH2_000036 rs35898375 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.339G>A, NM_001258281.1:c.141G>A r.(=) p.(=)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 ./. g.10085530C>T - FANCD2_000110 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1116C>T, NM_033084.3:c.1116C>T r.(=) p.(=)
3 Parent #2 ./. g.10085532C>T - FANCD2_000111 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1118C>T, NM_033084.3:c.1118C>T r.(?) p.(Ser373Leu)
5 Parent #2 ./. g.112178015A>G - APC_000035 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.6724A>G, NM_001127510.2:c.6724A>G, NM_001127511.2:c.6670A>G r.(?) p.(Ser2242Gly), p.(Ser2224Gly)
5 Parent #2 ./. g.176563061A>G - NSD1_000072 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.927+30A>G, NM_172349.2:c.120+30A>G r.(=) p.(=)
7 Parent #2 ./. g.6048618C>G - PMS2_000018 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.23+10G>C r.(=) p.(=)
12 Parent #2 ./. g.88953525T>C - chr12_000017 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.32972526G>A - BRCA2_000194 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9876G>A r.(=) p.(=)
17 Parent #2 ./. g.66521131T>A - PRKAR1A_000003 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.549+32T>A, NM_001276290.1:c.549+32T>A, NM_002734.4:c.549+32T>A, NM_212471.2:c.549+32T>A, NM_212472.2:c.549+32T>A r.(=) p.(=)
17 Parent #2 ./. g.74473023C>T - RHBDF2_000025 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1004G>A, NM_024599.5:c.1091G>A r.(?) p.(Arg335Gln), p.(Arg364Gln)
19 Parent #2 ./. g.1219459A>G - STK11_000009 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.464+47A>G r.(=) p.(=)
19 Parent #2 ./. g.1219461_1219462insGGC - STK11_000037 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.464+49_464+50insGGC r.(=) p.(=)
21 Parent #2 ./. g.36259336A>T - RUNX1_000002 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.74T>A, NM_001122607.1:c.74T>A, NM_001754.4:c.155T>A r.(?) p.(Met25Lys), p.(Met52Lys)
Legend