Individual #00017505

Reference -
Gender F
Geographic origin Evros
Geographic origin Sesklo, Volos
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, OvTer
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     
0000009987 39y - - - - Despoina Kalfakakou

Ovarian Teratoma (OvTer)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009988 22y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001163 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.29940430A>C - ALK_000074 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.787+14T>G r.(=) p.(=)
3 Parent #1 -?/-? g.37067096_37067102del - MLH1_000005 rs71831268 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067097_37067102del - MLH1_000042 rs1178900468 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-31_1039-26del, NM_001167617.1:c.745-31_745-26del, NM_001167618.1:c.316-31_316-26del, NM_001167619.1:c.316-31_316-26del, NM_001258271.1:c.1039-31_1039-26del, NM_001258273.1:c.316-31_316-26del, NM_001258274.1:c.316-31_316-26del r.(=) p.(=)
9 Parent #2 -?/-? g.98218700A>G - PTCH1_000084 rs367654039 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3169-5T>C, NM_001083602.1:c.2971-5T>C, NM_001083603.1:c.3166-5T>C, NM_001083604.1:c.2716-5T>C, NM_001083605.1:c.2716-5T>C, NM_001083606.1:c.2716-5T>C, NM_001083607.1:c.2716-5T>C r.spl? p.?
11 Parent #2 ?/? g.64575491C>A - MEN1_000015 rs376872829 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.541G>T, NM_130799.2:c.526G>T, NM_130800.2:c.541G>T, NM_130801.2:c.541G>T, NM_130802.2:c.541G>T, NM_130803.2:c.541G>T, NM_130804.2:c.541G>T r.(?) p.(Ala181Ser), p.(Ala176Ser)
16 Parent #2 ?/? g.3658703_3658705del - SLX4_000057 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.261_263del r.(?) p.(Arg87del)
16 Parent #2 ?/? g.14041930C>T - ERCC4_000037 rs141790888 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2477C>T r.(?) p.(Ala826Val)
16 Parent #2 -?/-? g.68835784C>T - CDH1_000051  rs773044699 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.375C>T r.(=) p.(=)
16 Parent #2 ?/? g.89845377G>C - FANCA_000140 rs145459403 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1750C>G r.(?) p.(Leu584Val)
17 Parent #2 ?/? g.17129682C>A - FLCN_000004 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.250-46G>T, NM_144997.5:c.250-46G>T r.(=) p.(=)
17 Parent #2 -?/-? g.29559710T>C - NF1_000228 rs764783865 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3315-8T>C, NM_001042492.2:c.3315-8T>C r.(=) p.(=)
17 Parent #2 ?/? g.29562804A>G - NF1_000229 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3870+14A>G, NM_001042492.2:c.3870+14A>G r.(=) p.(=)
19 Parent #2 ?/? g.45871973T>C - ERCC2_000070 rs780965895 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.275A>G, NM_001130867.1:c.203A>G r.(?) p.(Asn92Ser), p.(Asn68Ser)
Legend