Individual #00017893

Reference -
Gender F
Geographic origin Samos
Geographic origin Peloponnese
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     
0000010699 39y - - Ductal Invasive III N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002009 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.47643476C>T - MSH2_000010 rs4987189 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.984C>T, NM_001258281.1:c.786C>T r.(=) p.(=)
7 Parent #2 ./. g.116380062A>G - MET_000020 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1451A>G, NM_001127500.1:c.1451A>G r.(?) p.(His484Arg)
9 Parent #2 ./. g.98209591T>C - PTCH1_000051 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3947A>G, NM_001083602.1:c.3749A>G, NM_001083603.1:c.3944A>G, NM_001083604.1:c.3494A>G, NM_001083605.1:c.3494A>G, NM_001083606.1:c.3494A>G, NM_001083607.1:c.3494A>G r.(?) p.(Tyr1316Cys), p.(Tyr1250Cys), p.(Tyr1315Cys), p.(Tyr1165Cys)
10 Parent #2 ./. g.43596033G>A - RET_000099 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.200G>A, NM_020975.4:c.200G>A r.(?) p.(Arg67His)
10 Parent #2 ./. g.43601830G>A - RET_000095 rs34682185 - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.874G>A, NM_020975.4:c.874G>A r.(?) p.(Val292Met)
14 Parent #2 ./. g.45645949C>T - FANCM_000050 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.3992C>T r.(?) p.(Pro1331Leu)
15 Parent #2 ./. g.91358417G>C - BLM_000096 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4162G>C r.(?) p.(Ala1388Pro)
16 Parent #2 ./. g.2110765C>T - TSC2_000010 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1070C>T, NM_001077183.1:c.1070C>T, NM_001114382.1:c.1070C>T r.(?) p.(Ala357Val)
16 Parent #2 ./. g.2129354C>T - TSC2_000293 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3209C>T, NM_001077183.1:c.3077C>T, NM_001114382.1:c.3209C>T r.(?) p.(Thr1070Met), p.(Thr1026Met)
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
17 Parent #2 ./. g.74475328C>T - RHBDF2_000060 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.304G>A, NM_024599.5:c.391G>A r.(?) p.(Asp102Asn), p.(Asp131Asn)
Legend