Individual #00016699

Reference -
Gender F
Geographic origin Kali Vrisi, Drama
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     
0000008902 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000361 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     
1 Parent #2 -?/-? g.17355075A>T - SDHB_000007 rs190139590 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.423+20T>A r.(=) p.(=)
3 Parent #2 -/- g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.78A>C, NM_033084.3:c.78A>C r.(?) p.(Gln26His)
5 Parent #2 ./. g.1308551C>T - chr5_000007 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128485017C>A - chr8_000008 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145741687G>C - RECQL4_000030 rs761367573 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.816C>G - p.?
9 Parent #2 ?/? g.98239023C>T - PTCH1_000026 rs974921661 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1602+18G>A, NM_001083602.1:c.1404+18G>A, NM_001083603.1:c.1599+18G>A, NM_001083604.1:c.1149+18G>A, NM_001083605.1:c.1149+18G>A, NM_001083606.1:c.1149+18G>A, NM_001083607.1:c.1149+18G>A r.(=) p.(=)
17 Parent #2 -?/-? g.29587544C>G - NF1_000078 rs190614908 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+11C>G, NM_001042492.2:c.4577+11C>G r.(=) p.(=)
17 Parent #2 -/- g.29679401A>G - NF1_000121 rs55865524 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7521A>G, NM_001042492.2:c.7584A>G r.(=) p.(=)
17 Parent #2 -?/-? g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.790C>T r.(?) p.(Arg264Trp)
18 Parent #2 -?/-? g.48575160G>A - SMAD4_000013 rs145988618 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.354G>A r.(=) p.(=)
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