Individual #00016969

Reference -
Gender F
Geographic origin Evia
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     
0000009269 27y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000740 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     
2 Parent #2 ?/? g.128046313C>T - ERCC3_000032 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.950G>A r.(?) p.(Arg317Lys)
3 Parent #2 -?/-? g.37067096_37067102del - MLH1_000005 rs71831268 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
4 Parent #2 -?/-? g.41747990_41748004del - PHOX2B_000014 rs761018157 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.765_779del r.(?) p.(Ala256_Ala260del)
7 Parent #2 -/- g.148543694del - EZH2_000030 rs3214332 - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.118-4del, NM_001203248.1:c.118-4del, NM_001203249.1:c.118-4del, NM_004456.4:c.118-4del, NM_152998.2:c.118-4del r.spl? p.?
7 Parent #1 ?/? g.148543694dup - EZH2_000029 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.118-4dup, NM_001203248.1:c.118-4dup, NM_001203249.1:c.118-4dup, NM_004456.4:c.118-4dup, NM_152998.2:c.118-4dup r.spl? p.?
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 ?/? g.135801046T>C - TSC1_000036 rs1588355427 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.291A>G, NM_001162426.1:c.291A>G, NM_001162427.1:c.210+1542A>G r.(?), r.(=) p.(Ile97Met), p.(=)
19 Parent #2 ?/? g.45866980G>A - ERCC2_000047 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1118+21C>T, NM_001130867.1:c.1046+21C>T r.(=) p.(=)
Legend