Individual #00017957

Reference -
Gender F
Geographic origin Neapoli, Elis
Geographic origin Metochi, Achaea
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     
0000010815 42y - - Ductal Invasive II N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002155 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.29451889G>A - ALK_000020 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2676C>T r.(=) p.(=)
3 Parent #2 ./. g.10116301A>C - FANCD2_000049 rs61751578 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2803A>C, NM_033084.3:c.2803A>C r.(?) p.(Ile935Leu)
3 Parent #2 ./. 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.(=)
4 Parent #2 ./. g.41748008_41748028del - PHOX2B_000015 - - - - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.741_761del r.(?) p.(Ala254_Ala260del)
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112136954G>C - APC_000068 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.730-22G>C, NM_001127510.2:c.730-22G>C, NM_001127511.2:c.676-22G>C r.(=) p.(=)
8 Parent #2 ./. g.30916058A>G - WRN_000019 rs34477820 - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.95A>G r.(?) p.(Lys32Arg)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
8 Parent #2 ./. g.145738644C>T - RECQL4_000070 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
15 Parent #2 ./. g.91292689A>T - BLM_000055 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.191A>T r.(?) p.(Asp64Val)
16 Parent #2 ./. g.2138570C>T - TSC2_000005 rs45517423 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5383C>T, NM_001077183.1:c.5182C>T, NM_001114382.1:c.5314C>T r.(?) p.(Arg1795Cys), p.(Arg1728Cys), p.(Arg1772Cys)
Legend