Individual #00021983

Reference -
Gender F
Geographic origin Neochori, Mesolongi
Geographic origin -
Population -
Consanguinity -
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     
0000014053 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006996 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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     
1 Parent #2 -?/-? g.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
11 Parent #2 ?/? g.64575454G>A - MEN1_000012  rs199706698 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.578C>T, NM_130799.2:c.563C>T, NM_130800.2:c.578C>T, NM_130801.2:c.578C>T, NM_130802.2:c.578C>T, NM_130803.2:c.578C>T, NM_130804.2:c.578C>T r.(?) p.(Pro193Leu), p.(Pro188Leu)
14 Parent #2 -/- g.45606290C>T - FANCM_000011 rs77374493 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
16 Parent #2 ?/? g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
22 Parent #2 ?/? g.30067808C>G - NF2_000044  rs776237839 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1000-7C>G, NM_016418.5:c.1000-7C>G, NM_181825.2:c.1000-7C>G, NM_181828.2:c.874-7C>G, NM_181829.2:c.877-7C>G, NM_181830.2:c.751-7C>G, NM_181831.2:c.751-7C>G, NM_181832.2:c.1000-7C>G, NM_181833.2:c.448-22933C>G r.(=) p.(=)
Legend