Individual #00020764

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, CMM3, LuCa, MNGM
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     
0000012536 53y - - - - Despoina Kalfakakou

Melanoma, cutaneous malignant, 3 (CMM3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012535 47y - - Uveal Despoina Kalfakakou

Lung Cancer (LuCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012538 61y - - - Despoina Kalfakakou

Meningioma (MNGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012537 55y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001415 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.48033796_48033805del - MSH6_000070 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.4001+6_4001+15del, NM_001281492.1:c.3611+6_3611+15del, NM_001281493.1:c.3095+6_3095+15del, NM_001281494.1:c.3095+6_3095+15del r.(=) p.(=)
3 Parent #2 +/+ g.52442564T>A - BAP1_000051 rs1060503744 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.181A>T r.(?) p.(Lys61*)
10 Parent #2 -?/-? g.72358248C>T - PRF1_000029 rs150558419 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1229G>A, NM_005041.4:c.1229G>A r.(?) p.(Arg410Gln)
11 Parent #2 -?/-? g.108117692T>G - ATM_000089 rs876659335 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.903T>G r.(=) p.(=)
13 Parent #2 -/- g.32913562A>C - BRCA2_000079 rs56087561 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5070A>C r.(?) p.(Lys1690Asn)
16 Parent #2 -/- g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5260-15C>T, NM_001077183.1:c.5059-15C>T, NM_001114382.1:c.5191-15C>T r.(=) p.(=)
17 Parent #2 ./. g.25541317C>T - chr17_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend