Individual #00017886

Reference -
Gender F
Geographic origin Corinth
Geographic origin Asia Minor
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     
0000010687 37y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002000 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
1 Parent #2 ./. g.161293444C>G - SDHC_000009 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.61C>G, NM_001035512.1:c.61C>G, NM_001035513.1:c.20+9229C>G, NM_001278172.1:c.61C>G, NM_003001.3:c.61C>G r.(?), r.(=) p.(Gln21Glu), p.(=)
2 Parent #2 ./. g.58456962C>G - FANCL_000002 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.203G>C, NM_018062.3:c.203G>C r.(?) p.(Arg68Pro)
3 Parent #2 ./. g.10085587T>G - FANCD2_000140 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1134+39T>G, NM_033084.3:c.1134+39T>G r.(=) p.(=)
7 Parent #2 ./. g.55214295G>A - EGFR_000012 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.425-4G>A, NM_201282.1:c.425-4G>A, NM_201283.1:c.425-4G>A, NM_201284.1:c.425-4G>A r.spl? p.?
9 Parent #2 ./. g.98242279C>G - PTCH1_000110 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1039G>C, NM_001083602.1:c.841G>C, NM_001083603.1:c.1036G>C, NM_001083604.1:c.586G>C, NM_001083605.1:c.586G>C, NM_001083606.1:c.586G>C, NM_001083607.1:c.586G>C r.(?) p.(Val347Leu), p.(Val281Leu), p.(Val346Leu), p.(Val196Leu)
10 Parent #2 ./. g.88681384A>T - BMPR1A_000007 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1274A>T r.(?) p.(Tyr425Phe)
11 Parent #2 ./. g.95532388T>A - CEP57_000013 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-8T>A, NM_001243777.1:c.46-8T>A, NM_014679.4:c.46-8T>A r.(=) p.(=)
13 Parent #2 ./. g.32893207T>A - BRCA2_000028 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-7T>A r.(=) p.(=)
16 Parent #2 ./. g.2132422G>A - TSC2_000026 rs45480591 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-15G>A, NM_001077183.1:c.3682+623G>A, NM_001114382.1:c.3814+623G>A r.(=) p.(=)
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)
16 Parent #2 ./. g.14041570T>C - ERCC4_000004 rs1800069 - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2117T>C r.(?) p.(Ile706Thr)
20 Parent #2 ./. g.62318225del - chr20_000011 - - - - - - - Despoina Kalfakakou - - - -
Legend