Individual #00017361

Reference -
Gender F
Geographic origin Romania
Geographic origin -
Population Romanian
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     

BRCA/FH     

Subtype     

Owner     
0000009812 29y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001030 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
5 Parent #2 -?/-? g.112175077T>C - APC_000076 rs147411334 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3786T>C, NM_001127510.2:c.3786T>C, NM_001127511.2:c.3732T>C r.(=) p.(=)
6 Parent #2 ./. g.32578071G>A - chr6_000017 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.31004859G>T - WRN_000015 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3460-21G>T r.(=) p.(=)
11 Parent #2 -?/-? g.61213555C>T - SDHAF2_000003 rs113652589 - Germline - - - - Despoina Kalfakakou SDHAF2 - NM_017841.2:c.*12C>T r.(=) p.(=)
13 Parent #2 ?/? g.103510638A>G - ERCC5_000006 rs4150295 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.542A>G r.(?) p.(His181Arg)
17 Parent #2 ?/? g.29587553G>A - NF1_000079 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+20G>A, NM_001042492.2:c.4577+20G>A r.(=) p.(=)
17 Parent #2 ?/? g.59924512C>T - BRIP1_000004 rs4988346 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
17 Parent #2 ?/? g.66511747T>G - PRKAR1A_000002 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.177+30T>G, NM_001276290.1:c.177+30T>G, NM_002734.4:c.177+30T>G, NM_212471.2:c.177+30T>G, NM_212472.2:c.177+30T>G r.(=) p.(=)
22 Parent #2 +?/+? g.29121087A>G - CHEK2_000007 rs17879961 Low risk allele Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
Legend