Individual #00017321

Reference -
Gender F
Geographic origin Avlonari, 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     
0000009756 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000981 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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     
1 Parent #2 ?/? g.17354374_17354379del - SDHB_000002  rs34261028 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-19_424-14del r.(=) p.(=)
2 Both (homozygous) +/+ g.190728500C>T - PMS1_000037 rs139932286 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1888C>T, NM_001128143.1:c.1771C>T, NM_001128144.1:c.1857-4025C>T r.(?), r.(=) p.(Arg630*), p.(Arg591*), p.(=)
2 Parent #2 ./. g.242371116T>C - chr2_000015 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.10103845C>T - FANCD2_000027 rs147523071 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1777C>T, NM_033084.3:c.1777C>T r.(?) p.(Pro593Ser)
3 Parent #2 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
5 Parent #2 -/- g.112173250G>A - APC_000010 rs72541809 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
5 Parent #2 -?/-? g.176671297C>T - NSD1_000018 rs139601377 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4378+26C>T, NM_172349.2:c.3571+26C>T r.(=) p.(=)
5 Parent #2 ?/? g.176721032T>C - NSD1_000056 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6663T>C, NM_172349.2:c.5856T>C r.(=) p.(=)
8 Parent #2 -?/-? g.31004638G>A - WRN_000036 rs144116311 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3453G>A r.(=) p.(=)
10 Parent #2 ?/? g.72357763A>G - PRF1_000016 rs140956842 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
11 Parent #2 -?/-? g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
11 Parent #2 ?/? g.95546706A>G - CEP57_000023 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.430A>G, NM_001243777.1:c.457A>G, NM_014679.4:c.457A>G r.(?) p.(Met144Val), p.(Met153Val)
15 Parent #2 ?/? g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.11T>C r.(?) p.(Val4Ala)
16 Parent #2 -?/-? g.89845197G>A - FANCA_000005 rs183513839 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
17 Parent #2 ?/? g.29541620G>A - NF1_000211 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1527+17G>A, NM_001042492.2:c.1527+17G>A, NM_001128147.2:c.1527+17G>A r.(=) p.(=)
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