Individual #00017984

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Nafplio
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000010860 49y - - Ductal In Situ II N/A Positive Negative Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002232 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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     
1 Parent #2 ./. g.121280606C>T - chr1_000002 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.29450402C>G - ALK_000120 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2914+38G>C r.(=) p.(=)
2 Parent #2 ./. g.190718999C>T - PMS1_000011 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1001C>T, NM_001128143.1:c.884C>T, NM_001128144.1:c.1001C>T r.(?) p.(Thr334Met), p.(Thr295Met)
2 Parent #2 ./. g.233195359C>T - DIS3L2_000105 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12696C>T, NM_152383.4:c.1924-41C>T r.(=) p.(=)
7 Parent #2 ./. g.66456289C>T - SBDS_000008 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.460-1G>A r.spl? p.?
7 Parent #2 ./. g.116339544G>A - MET_000074 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.406G>A, NM_001127500.1:c.406G>A r.(?) p.(Val136Ile)
9 Parent #2 ./. g.98231110G>A - PTCH1_000015 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
10 Parent #2 ./. g.104357064C>T - SUFU_000003 - - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
13 Parent #2 ./. g.49039095del - RB1_000023 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ./. g.49039095dup - RB1_000022 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
14 Parent #2 ./. g.45623852A>G - FANCM_000062 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1184-48A>G r.(=) p.(=)
16 Parent #2 ./. g.89877386G>C - FANCA_000052 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.377C>G, NM_001018112.1:c.377C>G r.(?) p.(Thr126Arg)
17 Parent #2 ./. g.29554356A>G - NF1_000219 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2325+47A>G, NM_001042492.2:c.2325+47A>G, NM_001128147.2:c.*5348A>G r.(=) p.(=)
17 Parent #2 ./. g.29554360G>T - NF1_000220 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2325+51G>T, NM_001042492.2:c.2325+51G>T, NM_001128147.2:c.*5352G>T r.(=) p.(=)
17 Parent #2 ./. g.74469448C>T - RHBDF2_000036 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1734-39G>A, NM_024599.5:c.1821-39G>A r.(=) p.(=)
19 Parent #2 ./. g.45855645C>T - ERCC2_000015 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-35G>A r.(=) p.(=)
Legend