Individual #00016836

Reference -
Gender F
Geographic origin Agiovlastika, Achaia
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     
0000009094 54y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000560 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.48010365C>T - MSH6_000030  rs565211544 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.-8C>T, NM_001281492.1:c.-8C>T, NM_001281493.1:c.-744C>T, NM_001281494.1:c.-1522C>T r.(=) p.(=)
3 Parent #2 -/- g.37067095A>T - MLH1_000004 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33A>T, NM_001167617.1:c.745-33A>T, NM_001167618.1:c.316-33A>T, NM_001167619.1:c.316-33A>T, NM_001258271.1:c.1039-33A>T, NM_001258273.1:c.316-33A>T, NM_001258274.1:c.316-33A>T r.(=) p.(=)
7 Parent #2 -?/-? g.55210990C>G - EGFR_000013 rs138872748 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.241-8C>G, NM_201282.1:c.241-8C>G, NM_201283.1:c.241-8C>G, NM_201284.1:c.241-8C>G r.(=) p.(=)
7 Parent #2 -?/-? g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.127G>T r.(?) p.(Val43Leu)
9 Parent #2 ?/? g.135772175G>T - TSC1_000013 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2976-34C>A, NM_001162426.1:c.2973-34C>A, NM_001162427.1:c.2823-34C>A r.(=) p.(=)
13 Parent #2 -?/-? g.32950842C>G - BRCA2_000094 rs80359127 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8668C>G r.(?) p.(Leu2890Val)
13 Parent #2 ?/? g.48916887A>G - RB1_000008 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ?/? g.48953701C>T - RB1_000010 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1333-29C>T r.(=) p.(=)
13 Parent #2 ?/? g.103504677T>G - ERCC5_000033 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.264+34T>G r.(=) p.(=)
16 Parent #2 ?/? g.68863648G>A - CDH1_000031 rs587782549 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2387G>A r.(?) p.(Arg796Gln)
17 Parent #2 ?/? g.66520112G>A - PRKAR1A_000001 rs28730841 - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.441-45G>A, NM_001276290.1:c.441-45G>A, NM_002734.4:c.441-45G>A, NM_212471.2:c.441-45G>A, NM_212472.2:c.441-45G>A r.(=) p.(=)
19 Parent #2 ?/? g.45855019G>A - ERCC2_000035 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2191-40C>T r.(=) p.(=)
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