Individual #00017439

Reference -
Gender F
Geographic origin Salcea, Suceava, Romania
Geographic origin -
Population Romanian
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     
0000009908 37y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001108 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.45798458G>A - MUTYH_000042 - - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.511C>T, NM_001048172.1:c.472C>T, NM_001048173.1:c.469C>T, NM_001048174.1:c.469C>T, NM_001128425.1:c.553C>T, NM_012222.2:c.544C>T r.(?) p.(Arg171Trp), p.(Arg158Trp), p.(Arg157Trp), p.(Arg185Trp), p.(Arg182Trp)
1 Parent #2 ./. g.161293492del - SDHC_000011 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+32del, NM_001035512.1:c.77+32del, NM_001035513.1:c.20+9277del, NM_001278172.1:c.77+32del, NM_003001.3:c.77+32del r.(=) p.(=)
3 Parent #2 ./. g.10133843C>T - FANCD2_000099 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3778-22C>T, NM_033084.3:c.3778-22C>T r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067103del - MLH1_000058 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
7 Parent #2 ./. g.6026827G>C - PMS2_000024 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1569C>G r.(=) p.(=)
10 Parent #2 ./. g.43596137G>A - RET_000036 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.304G>A, NM_020975.4:c.304G>A r.(?) p.(Asp102Asn)
11 Parent #2 ./. g.8252823A>T - chr11_000025 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.32417962A>G - WT1_000001 rs5030274 - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.1048-9T>C, NM_001198551.1:c.463-9T>C, NM_001198552.1:c.412-9T>C, NM_024424.3:c.1099-9T>C, NM_024426.4:c.1099-9T>C r.(=) p.(=)
13 Parent #2 ./. g.32911030A>C - BRCA2_000164 rs11571654 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2538A>C r.(=) p.(=)
15 Parent #2 ./. g.89828377T>C - FANCI_000033 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1749T>C, NM_018193.2:c.1749T>C r.(=) p.(=)
Legend