Individual #00016634

Reference -
Gender M
Geographic origin -
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     
0000008808 66y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006970 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
3 Parent #2 ?/? g.10081063C>T - FANCD2_000068 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.570+22C>T, NM_033084.3:c.570+22C>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
7 Parent #2 -?/-? g.148508821T>G - EZH2_000059 rs199654408 - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1837-9A>C, NM_001203248.1:c.1810-9A>C, NM_001203249.1:c.1684-9A>C, NM_004456.4:c.1852-9A>C, NM_152998.2:c.1720-9A>C r.(=) p.(=)
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
13 Parent #2 -/- g.32907403T>C - BRCA2_000163 rs11571642 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1788T>C r.(=) p.(=)
13 Parent #2 ?/? g.48954159C>T - RB1_000002 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-30C>T r.(=) p.(=)
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
16 Parent #2 ?/? g.89862278T>C - FANCA_000070 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1006+36A>G, NM_001018112.1:c.*3209A>G r.(=) p.(=)
17 Parent #2 ?/? g.29654868T>A - NF1_000272 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.5546+11T>A, NM_001042492.2:c.5609+11T>A r.(=) p.(=)
17 Parent #2 ?/? g.74470000A>T - RHBDF2_000013 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1575-16T>A, NM_024599.5:c.1662-16T>A r.(=) p.(=)
Legend