Individual #00016309

Reference -
Gender F
Geographic origin Sparti
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, PGL4
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     
0000008331 34y - - - - Despoina Kalfakakou

Paragangliomas 4 (PGL4)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000008332 33y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000065 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
1 Parent #2 -?/-? g.45797139G>A - MUTYH_000005 rs150792276 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1234C>T, NM_001048172.1:c.1195C>T, NM_001048173.1:c.1192C>T, NM_001048174.1:c.1192C>T, NM_001128425.1:c.1276C>T, NM_012222.2:c.1267C>T r.(?) p.(Arg412Cys), p.(Arg399Cys), p.(Arg398Cys), p.(Arg426Cys), p.(Arg423Cys)
1 Parent #2 -?/-? g.45798855G>C - MUTYH_000002 rs201207780 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.347-13C>G, NM_001048172.1:c.308-13C>G, NM_001048173.1:c.305-13C>G, NM_001048174.1:c.305-13C>G, NM_001128425.1:c.389-13C>G, NM_012222.2:c.380-13C>G r.(=) p.(=)
7 Parent #2 ?/? g.116411880_116411883del - MET_000004 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.2888-23_2888-20del, NM_001127500.1:c.2942-23_2942-20del r.(=) p.(=)
8 Parent #2 -?/-? g.30924611C>T - WRN_000021 rs1435530318 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.567C>T r.(=) p.(=)
11 Parent #2 +/+ g.111965555A>G Andrews et al (2018)  SDHD_000002 rs104894304 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.196A>G, NM_001276504.1:c.224A>G, NM_001276506.1:c.*39A>G, NM_003002.3:c.341A>G r.(?), r.(=) p.(Met66Val), p.(Tyr75Cys), p.(=), p.(Tyr114Cys)
16 Parent #2 -/- g.2121911C>T - TSC2_000017 rs45512398 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2073C>T, NM_001077183.1:c.2073C>T, NM_001114382.1:c.2073C>T r.(=) p.(=)
17 Parent #2 ?/? g.33428327G>A Konstanta et al (2018) RAD51D_000001 rs587781813 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.856C>T, NM_002878.3:c.796C>T, NM_133629.2:c.460C>T r.(?) p.(Arg286Cys), p.(Arg266Cys), p.(Arg154Cys)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
X Parent #2 -/- g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1643-7_1643-4del, NM_001164618.1:c.1526-7_1526-4del, NM_001164619.1:c.1412-7_1412-4del, NM_004484.3:c.1574-7_1574-4del r.spl? p.?
Legend