Individual #00016984

Reference -
Gender M
Geographic origin Kyparissia
Geographic origin Preveza
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     
0000009288 51y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000754 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.47637301T>G - MSH2_000032 rs63750124 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.435T>G, NM_001258281.1:c.237T>G r.(?) p.(Ile145Met), p.(Ile79Met)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
2 Parent #2 +?/+? g.58468447A>G - FANCL_000013 rs761291501 - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.2T>C, NM_018062.3:c.2T>C r.? p.?
3 Parent #2 ?/? g.10103813A>T - FANCD2_000081 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1767-22A>T, NM_033084.3:c.1767-22A>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
10 Parent #2 ./. g.64278709del - chr10_000023 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
16 Parent #2 ?/? g.2103372C>T - TSC2_000039 rs45517098 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 -/- g.2138086C>A - TSC2_000033 rs45483700 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5106C>A, NM_001077183.1:c.4905C>A, NM_001114382.1:c.5037C>A r.(=) p.(=)
16 Parent #2 -/- g.89805045A>C - FANCA_000019 rs149531696 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4332T>G r.(=) p.(=)
Legend