Individual #00017043

Reference -
Gender F
Geographic origin Dominican Republic
Geographic origin Armenia
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     
0000009378 45y - - Ductal In Situ N/A N/A Positive Positive N/A - - - Despoina Kalfakakou
0000009379 42y - - Ductal Invasive III N/A Positive Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000784 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.128047101C>G - ERCC3_000005 rs4150413 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.658-24G>C r.(=) p.(=)
3 Parent #2 ./. g.37053550G>A - MLH1_000070 rs2308317 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.637G>A, NM_001167617.1:c.343G>A, NM_001167618.1:c.-87G>A, NM_001167619.1:c.-87G>A, NM_001258271.1:c.637G>A, NM_001258273.1:c.-87G>A, NM_001258274.1:c.-87G>A r.(?), r.(=) p.(Val213Met), p.(Val115Met), p.(=)
7 Parent #2 ./. g.148529683A>G - EZH2_000028 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.363+43T>C, NM_001203248.1:c.336+43T>C, NM_001203249.1:c.336+43T>C, NM_004456.4:c.363+43T>C, NM_152998.2:c.247-2743T>C r.(=) p.(=)
9 Parent #2 ./. g.135778065G>T - TSC1_000038 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2318C>A, NM_001162426.1:c.2315C>A, NM_001162427.1:c.2165C>A r.(?) p.(Thr773Asn), p.(Thr772Asn), p.(Thr722Asn)
9 Parent #2 ./. g.135778066T>G - TSC1_000037 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2317A>C, NM_001162426.1:c.2314A>C, NM_001162427.1:c.2164A>C r.(?) p.(Thr773Pro), p.(Thr772Pro), p.(Thr722Pro)
9 Parent #2 ./. g.135804107T>G - TSC1_000035 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.106+47A>C, NM_001162426.1:c.106+47A>C, NM_001162427.1:c.106+47A>C r.(=) p.(=)
11 Parent #2 ./. g.111958677A>G - SDHD_000003 rs11214077 - - - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
14 Parent #2 ./. g.45667921C>T - FANCM_000031 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5791C>T r.(?) p.(Arg1931*)
17 Parent #2 ./. g.36098076C>T - chr17_000016 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.74470523G>A - RHBDF2_000005 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1396C>T, NM_024599.5:c.1483C>T r.(?) p.(Arg466Trp), p.(Arg495Trp)
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