Individual #00020936

Reference -
Gender F
Geographic origin Zoodochos Pigi, Euboea
Geographic origin Chalkida
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrainCa, TRC
Owner name Despoina Kalfakakou


Phenotypes

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012825 32y - - Papillary Despoina Kalfakakou

Brain Cancer (BrainCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012826 28y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001584 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.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
3 Parent #2 ?/? g.14193818C>A - XPC_000032 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2004+17G>T, NM_004628.4:c.2115+17G>T r.(=) p.(=)
5 Parent #2 -?/-? g.112178112C>T - APC_000043 rs34919187 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.6821C>T, NM_001127510.2:c.6821C>T, NM_001127511.2:c.6767C>T r.(?) p.(Ala2274Val), p.(Ala2256Val)
9 Parent #2 -?/-? g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4324C>T, NM_001083602.1:c.4126C>T, NM_001083603.1:c.4321C>T, NM_001083604.1:c.3871C>T, NM_001083605.1:c.3871C>T, NM_001083606.1:c.3871C>T, NM_001083607.1:c.3871C>T r.(?) p.(Arg1442Trp), p.(Arg1376Trp), p.(Arg1441Trp), p.(Arg1291Trp)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
13 Parent #2 ?/? g.103520424A>G - ERCC5_000002 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2534-39A>G r.(=) p.(=)
16 Parent #2 -?/-? g.23649446T>C - PALB2_000021 rs138789658 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.53A>G r.(?) p.(Lys18Arg)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
Legend