Individual #00017797

Reference -
Gender F
Geographic origin Lagkadas, Thessaloniki
Geographic origin Athens
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     
0000010508 37y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001800 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.47690335A>T - MSH2_000076 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1510+42A>T, NM_001258281.1:c.1312+42A>T r.(=) p.(=)
2 Parent #2 ./. g.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
6 Parent #2 ./. g.29906709G>C - chr6_000023 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.31024503T>C - WRN_000103 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3983-35T>C r.(=) p.(=)
9 Parent #2 ./. g.863682A>C - chr9_000004 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.98240378C>T - PTCH1_000089 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1306G>A, NM_001083602.1:c.1108G>A, NM_001083603.1:c.1303G>A, NM_001083604.1:c.853G>A, NM_001083605.1:c.853G>A, NM_001083606.1:c.853G>A, NM_001083607.1:c.853G>A r.(?) p.(Asp436Asn), p.(Asp370Asn), p.(Asp435Asn), p.(Asp285Asn)
11 Parent #2 ./. g.533451A>C - HRAS_000002 - - - - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.450+2T>G, NM_005343.2:c.450+2T>G, NM_176795.3:c.450+2T>G r.spl? p.?
12 Parent #2 ./. g.121434317C>T - HNF1A_000001 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
13 Parent #2 ./. g.103520424A>G - ERCC5_000002 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2534-39A>G r.(=) p.(=)
17 Parent #2 ./. g.29559871C>T - NF1_000083 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3468C>T, NM_001042492.2:c.3468C>T r.(=) p.(=)
19 Parent #2 ./. g.45856019C>G - ERCC2_000018 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1887G>C r.(?) p.(Gln629His)
Legend