Individual #00017880

Reference -
Gender F
Geographic origin Livadeia
Geographic origin -
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     

BRCA/FH     

Subtype     

Owner     
0000010681 47y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001290 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.96930966C>A - TMEM127_000009 rs767257269 - Germline - - - - Despoina Kalfakakou TMEM127 - NM_001193304.2:c.154G>T, NM_017849.3:c.154G>T r.(?) p.(Ala52Ser)
3 Parent #2 -?/-? g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.501G>A r.(=) p.(=)
5 Parent #2 +?/+? g.112175211T>A - APC_000005 rs1801155 Low-risk allele Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3920T>A, NM_001127510.2:c.3920T>A, NM_001127511.2:c.3866T>A r.(?) p.(Ile1307Lys), p.(Ile1289Lys)
5 Parent #2 ?/? g.176715770del - NSD1_000006 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6152-50del, NM_172349.2:c.5345-50del r.(=) p.(=)
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
18 Parent #2 -/- g.48604848C>T - SMAD4_000004 rs11663402 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
Legend