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     

BRCA/FH     

Subtype     

Owner     
0000010693 38y - - - - 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.
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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.48025785A>C - MSH6_000028 rs41557217 - Germline - - - - 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 rs139620056 - Germline - - - - 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 - Germline - - - - 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 rs201702515 - Germline - - - - 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 rs144116311 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3453G>A r.(=) p.(=)
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3993+40G>A r.(=) p.(=)
12 Parent #2 -?/-? g.121435353C>T - HNF1A_000002 rs143015301 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1386C>T r.(=) p.(=)
14 Parent #2 ?/? g.45636210A>G - FANCM_000004 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1846A>G r.(?) p.(Arg616Gly)
17 Parent #2 ?/? g.29585352_29585354del - NF1_000207 - - Germline - - - - 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 rs779187915 - Germline - - - - 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)
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