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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008340 63y - - Ductal Invasive III N/A Positive Negative Negative - - - Despoina Kalfakakou

Pancreatic cancer (PANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

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 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.618C>T r.(=) p.(=)
3 Parent #2 ./. g.14199940C>A - XPC_000002 - - - - - - - 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 - - - - - - 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 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48del, NM_001093772.1:c.2349+48del r.(=) p.(=)
4 Parent #1 ./. g.55598212dup - KIT_000006 - - - - - - - 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 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
16 Parent #2 ./. g.23646141_23646142insTCA - PALB2_000005 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
17 Parent #2 ./. g.59924512C>T - BRIP1_000004 rs4988346 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
17 Parent #2 ./. g.66511747T>G - PRKAR1A_000002 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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