Individual #00017464

Reference -
Gender F
Geographic origin Aghios Vasileios, Aetolia-Acarnania
Geographic origin Oichalia, Trikala
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000009935 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001125 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     
1 Parent #2 ?/? g.193099415G>A - CDC73_000004 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.307+42G>A r.(=) p.(=)
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
6 Parent #2 ./. g.31620477_31620478insC - chr6_000053 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2149G>A r.(?) p.(Val717Met)
9 Parent #2 ?/? g.21970993C>G - CDKN2A_000019 rs373291490 - Germline - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.365G>C, NM_001195132.1:c.365G>C, NM_058195.3:c.*9G>C, NM_058197.4:c.*288G>C r.(?), r.(=) p.(Gly122Ala), p.(=)
9 Parent #2 ?/? g.98241259C>T - PTCH1_000062 rs2066840 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1215+23G>A, NM_001083602.1:c.1017+23G>A, NM_001083603.1:c.1212+23G>A, NM_001083604.1:c.762+23G>A, NM_001083605.1:c.762+23G>A, NM_001083606.1:c.762+23G>A, NM_001083607.1:c.762+23G>A r.(=) p.(=)
10 Parent #2 ?/? g.43610187G>A - RET_000059 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2136+3G>A, NM_020975.4:c.2136+3G>A r.spl? p.?
11 Parent #2 ?/? g.95562311C>T - CEP57_000001 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.1101-40C>T, NM_001243777.1:c.1050-40C>T, NM_014679.4:c.1128-40C>T r.(=) p.(=)
12 Parent #2 ?/? g.121432120C>A - HNF1A_000033 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.867C>A r.(=) p.(=)
13 Parent #2 +/+ g.32969071G>A - BRCA2_000014 rs397508058 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9501+1G>A r.spl? p.?
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
16 Parent #2 ?/? g.14026187A>G - ERCC4_000012 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1102+45A>G r.(=) p.(=)
17 Parent #2 -?/-? g.29559839G>A - NF1_000222 rs201047812 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3436G>A, NM_001042492.2:c.3436G>A r.(?) p.(Val1146Ile)
22 Parent #2 -?/-? g.30069483G>T - NF2_000004 rs370604189 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1340+8G>T, NM_016418.5:c.1340+8G>T, NM_181825.2:c.1340+8G>T, NM_181828.2:c.1214+8G>T, NM_181829.2:c.1217+8G>T, NM_181830.2:c.1091+8G>T, NM_181831.2:c.1091+8G>T, NM_181832.2:c.1340+8G>T, NM_181833.2:c.448-21258G>T r.(=) p.(=)
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