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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009756 50y - - Ductal Invasive II N/A Positive Positive Negative - - - 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.
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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     
1 Parent #2 ./. g.17354374_17354379del - SDHB_000002 rs34261028 - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-19_424-14del r.(=) p.(=)
2 Both (homozygous) ./. g.190728500C>T - PMS1_000037 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3453G>A r.(=) p.(=)
10 Parent #2 ./. g.72357763A>G - PRF1_000016 - - - - - - - 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 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
11 Parent #2 ./. g.95546706A>G - CEP57_000023 - - - - - - - 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 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.11T>C r.(?) p.(Val4Ala)
16 Parent #2 ./. g.89845197G>A - FANCA_000005 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
17 Parent #2 ./. g.29541620G>A - NF1_000211 - - - - - - - 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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