Individual #00016630

Reference -
Gender M
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
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     
0000008804 61y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006966 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
3 Parent #2 ?/? g.37035066C>T - MLH1_000137 rs1193754562 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.28C>T, NM_001167617.1:c.-489C>T, NM_001167618.1:c.-918C>T, NM_001167619.1:c.-831C>T, NM_001258271.1:c.28C>T, NM_001258273.1:c.-605C>T, NM_001258274.1:c.-1068C>T r.(?), r.(=) p.(Arg10Trp), p.(=)
3 Parent #2 ?/? g.37067083A>C - MLH1_000002 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-45A>C, NM_001167617.1:c.745-45A>C, NM_001167618.1:c.316-45A>C, NM_001167619.1:c.316-45A>C, NM_001258271.1:c.1039-45A>C, NM_001258273.1:c.316-45A>C, NM_001258274.1:c.316-45A>C r.(=) p.(=)
5 Parent #2 -?/-? g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.730-22G>C, NM_001127510.2:c.730-22G>C, NM_001127511.2:c.676-22G>C r.(=) p.(=)
5 Parent #2 -?/-? g.112175503C>A - APC_000165 rs144655979 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.4212C>A, NM_001127510.2:c.4212C>A, NM_001127511.2:c.4158C>A r.(=) p.(=)
6 Parent #2 ./. g.160840233del - chr6_000049 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145736791C>T - RECQL4_000017 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.*23G>A - p.?
10 Parent #2 ?/? g.43600559T>C - RET_000006 rs139790943 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.785T>C, NM_020975.4:c.785T>C r.(?) p.(Val262Ala)
11 Parent #2 ?/? g.44129605G>A - EXT2_000045 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.442G>A, NM_001178083.1:c.343G>A, NM_207122.1:c.343G>A r.(?) p.(Val148Met), p.(Val115Met)
13 Parent #2 +/+ g.32936830G>A - BRCA2_000252 rs80359027 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7976G>A r.(?) p.(Arg2659Lys)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
Legend