Individual #00017578

Reference -
Gender F
Geographic origin Lasithi Plateau
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, MNGM
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     
0000010096 56y - - Ductal In Situ N/A N/A Negative Negative N/A - - - Despoina Kalfakakou

Meningioma (MNGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000010097 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001251 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
8 Parent #2 ./. g.30945245C>T - WRN_000081 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1432-47C>T r.(=) p.(=)
8 Parent #2 ./. g.145738638C>T - RECQL4_000038 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2427G>A - p.?
11 Parent #2 ./. g.22646718A>G - FANCF_000019 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.639T>C r.(=) p.(=)
14 Parent #2 ./. g.45606290C>T - FANCM_000011 rs77374493 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
16 Parent #2 ./. g.89815060C>A - FANCA_000038 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+7G>T r.(=) p.(=)
17 Parent #2 ./. g.29527659A>G - NF1_000231 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1062+46A>G, NM_001042492.2:c.1062+46A>G, NM_001128147.2:c.1062+46A>G r.(=) p.(=)
17 Parent #2 ./. g.66518923G>A - PRKAR1A_000026 rs74863634 - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.204G>A, NM_001276290.1:c.204G>A, NM_002734.4:c.204G>A, NM_212471.2:c.204G>A, NM_212472.2:c.204G>A r.(=) p.(=)
17 Parent #2 ./. g.74473918G>A - RHBDF2_000042 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.673-51C>T, NM_024599.5:c.760-51C>T r.(=) p.(=)
Legend