Individual #00016915

Reference -
Gender F
Geographic origin Giannitsa, Pella
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     
0000009200 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000670 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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     
2 Parent #2 -/- g.48027755T>C - MSH6_000008 rs2020912 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
3 Parent #2 ?/? g.37061775_37061778del - MLH1_000065 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.885-26_885-23del, NM_001167617.1:c.591-26_591-23del, NM_001167618.1:c.162-26_162-23del, NM_001167619.1:c.162-26_162-23del, NM_001258271.1:c.885-26_885-23del, NM_001258273.1:c.162-26_162-23del, NM_001258274.1:c.162-26_162-23del r.(=) p.(=)
3 Parent #2 -/- g.37067102T>A - MLH1_000007 rs1360955428 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-26T>A, NM_001167617.1:c.745-26T>A, NM_001167618.1:c.316-26T>A, NM_001167619.1:c.316-26T>A, NM_001258271.1:c.1039-26T>A, NM_001258273.1:c.316-26T>A, NM_001258274.1:c.316-26T>A r.(=) p.(=)
4 Parent #2 -?/-? g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.726A>G r.(=) p.(=)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
8 Parent #2 ?/? g.90967824T>C - NBN_000024 - - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1125-41A>G r.(=) p.(=)
8 Parent #2 ./. g.128424757G>T - chr8_000009 rs76573300 - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 -?/-? g.98229654G>A - PTCH1_000014 rs1805156 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2304C>T, NM_001083602.1:c.2106C>T, NM_001083603.1:c.2301C>T, NM_001083604.1:c.1851C>T, NM_001083605.1:c.1851C>T, NM_001083606.1:c.1851C>T, NM_001083607.1:c.1851C>T r.(=) p.(=)
10 Parent #2 -?/-? g.104359297G>T - SUFU_000001 rs34135067 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
13 Parent #2 -/- g.32912008G>A - BRCA2_000024 rs1799952 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3516G>A r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
17 Parent #2 ?/? g.29554582G>A - NF1_000102 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2367G>A, NM_001042492.2:c.2367G>A, NM_001128147.2:c.*5574G>A r.(=) p.(=)
17 Parent #2 ?/? g.29557822C>A - NF1_000170 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3114-38C>A, NM_001042492.2:c.3114-38C>A r.(=) p.(=)
17 Parent #2 ?/? g.66520112G>A - PRKAR1A_000001 rs28730841 - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.441-45G>A, NM_001276290.1:c.441-45G>A, NM_002734.4:c.441-45G>A, NM_212471.2:c.441-45G>A, NM_212472.2:c.441-45G>A r.(=) p.(=)
19 Parent #2 ?/? g.33792733C>G - CEBPA_000001 - - Germline - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.588G>C r.(=) p.(=)
19 Parent #2 -/- g.45867713G>A - ERCC2_000041 rs34021577 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.687C>T, NM_001130867.1:c.615C>T r.(=) p.(=)
20 Parent #2 ./. g.62318243_62318247del - chr20_000009 - - - - - - - Despoina Kalfakakou - - - -
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