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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009987 39y - - Ductal Invasive III N/A Positive Positive Positive - - - Despoina Kalfakakou

Ovarian Teratoma (OvTer)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

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 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.787+14T>G r.(=) p.(=)
3 Parent #1 ./. g.37067096_37067102del - MLH1_000005 rs71831268 - - - - - - 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 rs71831268 - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.261_263del r.(?) p.(Arg87del)
16 Parent #2 ./. g.14041930C>T - ERCC4_000037 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2477C>T r.(?) p.(Ala826Val)
16 Parent #2 ./. g.68835784C>T - CDH1_000051 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.375C>T r.(=) p.(=)
16 Parent #2 ./. g.89845377G>C - FANCA_000140 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1750C>G r.(?) p.(Leu584Val)
17 Parent #2 ./. g.17129682C>A - FLCN_000004 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.275A>G, NM_001130867.1:c.203A>G r.(?) p.(Asn92Ser), p.(Asn68Ser)
Legend