Individual #00017890

Reference -
Gender F
Geographic origin Fier, Albania
Geographic origin -
Population Albanian
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     
0000010693 38y - - Ductal Invasive III N/A Negative Negative Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002006 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.48025785A>C - MSH6_000028 rs41557217 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.663A>C, NM_001281492.1:c.273A>C, NM_001281493.1:c.-244A>C, NM_001281494.1:c.-244A>C r.(?), r.(=) p.(Glu221Asp), p.(Glu91Asp), p.(=)
3 Parent #2 ./. g.37045863C>A - MLH1_000021 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 ./. g.37048579A>G - MLH1_000018 rs4647246 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
5 Parent #2 ./. g.176637295G>A - NSD1_000097 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1895G>A, NM_172349.2:c.1088G>A r.(?) p.(Arg632Gln), p.(Arg363Gln)
8 Parent #2 ./. g.31004638G>A - WRN_000036 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3453G>A r.(=) p.(=)
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)
11 Parent #2 ./. g.108155240G>A - ATM_000063 rs3218709 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3993+40G>A r.(=) p.(=)
12 Parent #2 ./. g.121435353C>T - HNF1A_000002 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1386C>T r.(=) p.(=)
14 Parent #2 ./. g.45636210A>G - FANCM_000004 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1846A>G r.(?) p.(Arg616Gly)
17 Parent #2 ./. g.29585352_29585354del - NF1_000207 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4111-10_4111-8del, NM_001042492.2:c.4174-10_4174-8del r.(=) p.(=)
X Parent #2 ./. g.132834011C>A - GPC3_000021 - - - - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1147G>T, NM_001164618.1:c.1030G>T, NM_001164619.1:c.916G>T, NM_004484.3:c.1078G>T r.(?) p.(Ala383Ser), p.(Ala344Ser), p.(Ala306Ser), p.(Ala360Ser)
Legend