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     

BRCA/FH     

Subtype     

Owner     
0000009908 37y - - - - 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 rs750592289 - Germline - - - - 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 rs141691113 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 rs141458772 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1569C>G r.(=) p.(=)
10 Parent #2 ?/? g.43596137G>A - RET_000036 rs201244749 - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2538A>C r.(=) p.(=)
15 Parent #2 -?/-? g.89828377T>C - FANCI_000033 rs201037656 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1749T>C, NM_018193.2:c.1749T>C r.(=) p.(=)
Legend