Individual #00016316

Reference -
Gender F
Geographic origin Neochori, Laconia
Geographic origin Gytheio, Laconia
Population Greek
Consanguinity no
Remarks -
Panel ID 00016315
Panel size 1
Diseases BrCa, PANCA
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000008340 63y - - - - Despoina Kalfakakou

Pancreatic cancer (PANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000008341 78y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000069 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.128047304G>A - ERCC3_000006 rs145830873 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.618C>T r.(=) p.(=)
3 Parent #2 -/- g.14199940C>A - XPC_000002 rs182616621 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1332G>T, NM_004628.4:c.1443G>T r.(?) p.(Lys444Asn), p.(Lys481Asn)
3 Parent #2 -?/-? g.37067096_37067102del - MLH1_000005 rs71831268 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
4 Parent #2 ?/? g.55598212del - KIT_000007 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48del, NM_001093772.1:c.2349+48del r.(=) p.(=)
4 Parent #1 ?/? g.55598212dup - KIT_000006 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48dup, NM_001093772.1:c.2349+48dup r.(=) p.(=)
11 Parent #2 ?/? g.22647116C>A - FANCF_000002 rs145057187 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
16 Parent #2 -?/-? g.23646141_23646142insTCA - PALB2_000005 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
17 Parent #2 ?/? g.59924512C>T - BRIP1_000004 rs4988346 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
17 Parent #2 ?/? g.66511747T>G - PRKAR1A_000002 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.177+30T>G, NM_001276290.1:c.177+30T>G, NM_002734.4:c.177+30T>G, NM_212471.2:c.177+30T>G, NM_212472.2:c.177+30T>G r.(=), p.(=),
17 Parent #2 -/- g.74473329C>T - RHBDF2_000002 rs140433374 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.853G>A, NM_024599.5:c.940G>A r.(?) p.(Ala285Thr), p.(Ala314Thr)
22 Parent #2 -?/-? g.29091154T>C - CHEK2_000011 rs121908705 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1465A>G, NM_001257387.1:c.673A>G, NM_007194.3:c.1336A>G, NM_145862.2:c.1249A>G r.(?) p.(Asn489Asp), p.(Asn225Asp), p.(Asn446Asp), p.(Asn417Asp)
Legend