Individual #00017474

Reference -
Gender F
Geographic origin Chaeronea, Boeotia
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     
0000009942 43y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001130 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.190660536G>T - PMS1_000002 rs143323454 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.174G>T, NM_001128143.1:c.174G>T, NM_001128144.1:c.174G>T r.(=) p.(=)
2 Parent #2 -?/-? g.190660537G>A - PMS1_000003 rs143265397 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.175G>A, NM_001128143.1:c.175G>A, NM_001128144.1:c.175G>A r.(?) p.(Glu59Lys)
3 Parent #2 ?/? g.37090123A>G - MLH1_000083 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1989+23A>G, NM_001167617.1:c.1695+23A>G, NM_001167618.1:c.1266+23A>G, NM_001167619.1:c.1266+23A>G, NM_001258271.1:c.1896+949A>G, NM_001258273.1:c.1266+23A>G, NM_001258274.1:c.1266+23A>G r.(=) p.(=)
9 Parent #2 -?/-? g.98212185C>T - PTCH1_000078 rs113663584 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3487G>A, NM_001083602.1:c.3289G>A, NM_001083603.1:c.3484G>A, NM_001083604.1:c.3034G>A, NM_001083605.1:c.3034G>A, NM_001083606.1:c.3034G>A, NM_001083607.1:c.3034G>A r.(?) p.(Gly1163Ser), p.(Gly1097Ser), p.(Gly1162Ser), p.(Gly1012Ser)
9 Parent #2 ?/? g.98224111G>A - PTCH1_000049 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2703+27C>T, NM_001083602.1:c.2505+27C>T, NM_001083603.1:c.2700+27C>T, NM_001083604.1:c.2250+27C>T, NM_001083605.1:c.2250+27C>T, NM_001083606.1:c.2250+27C>T, NM_001083607.1:c.2250+27C>T r.(=) p.(=)
14 Parent #2 ?/? g.45633577C>T - FANCM_000075 rs146151355 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1597C>T r.(?) p.(Arg533Cys)
14 Parent #2 -/- g.95569719C>T - DICER1_000002 rs143454689 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.4014G>A, NM_001271282.1:c.4014G>A, NM_030621.3:c.4014G>A, NM_177438.2:c.4014G>A r.(=) p.(=)
15 Parent #2 -/- g.89838176T>G - FANCI_000010 rs145762491 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
16 Parent #2 ?/? g.3641280C>T - SLX4_000043 rs140600202 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2359G>A r.(?) p.(Glu787Lys)
16 Parent #2 ?/? g.89842257C>G - FANCA_000127 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1827-34G>C r.(=) p.(=)
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