Individual #00016856

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Patra
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     
0000009121 34y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000588 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.47630458A>G - MSH2_000035 rs17217723 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.128A>G, NM_001258281.1:c.-30-41A>G r.(?), r.(=) p.(Tyr43Cys), p.(=)
2 Parent #2 +?/+? g.128047339_128047346del - ERCC3_000027 rs766657138 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.576_583del r.(?) p.(Val193Argfs*8)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55269452G>A - EGFR_000034 rs142442994 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3139G>A r.(?) p.(Val1047Met)
9 Parent #2 -?/-? g.21968220T>A - CDKN2A_000010 rs763795863 - Germline - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.*8A>T, NM_001195132.1:c.*172A>T, NM_058195.3:c.*123A>T, NM_058197.4:c.*402A>T r.(=) p.(=)
9 Parent #2 +?/+? g.97934430C>T - FANCC_000003 rs1484503633 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.346-1G>A, NM_001243743.1:c.346-1G>A, NM_001243744.1:c.346-1G>A r.spl? p.?
9 Parent #2 -?/-? g.98009786C>T - FANCC_000017 rs138629441 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.178G>A, NM_001243743.1:c.178G>A, NM_001243744.1:c.178G>A r.(?) p.(Val60Ile)
9 Parent #2 -?/-? g.98232081G>A - PTCH1_000016 rs202007968 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1847+14C>T, NM_001083602.1:c.1649+14C>T, NM_001083603.1:c.1844+14C>T, NM_001083604.1:c.1394+14C>T, NM_001083605.1:c.1394+14C>T, NM_001083606.1:c.1394+14C>T, NM_001083607.1:c.1394+14C>T r.(=) p.(=)
13 Parent #2 ?/? g.32903576_32903577del - BRCA2_000089 - - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.632-4_632-3del r.spl? p.?
13 Parent #2 ?/? g.48954159C>T - RB1_000002 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-30C>T r.(=) p.(=)
14 Parent #2 -?/-? g.95599776T>C - DICER1_000009  rs117358479 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.20A>G, NM_001271282.1:c.20A>G, NM_030621.3:c.20A>G, NM_177438.2:c.20A>G r.(?) p.(Gln7Arg)
16 Parent #2 ?/? g.23641044G>A - PALB2_000030 rs866520250 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2431C>T r.(?) p.(Pro811Ser)
16 Parent #2 -?/-? g.89845197G>A - FANCA_000005 rs183513839 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
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