Individual #00017509

Reference -
Gender F
Geographic origin Patra
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     
0000009991 48y - - Ductal Invasive III II Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001165 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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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.161326475C>T - SDHC_000018 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5644C>T, NM_001035512.1:c.148C>T, NM_001035513.1:c.91C>T, NM_001278172.1:c.140-5644C>T, NM_003001.3:c.250C>T r.(=), r.(?) p.(=), p.(Leu50Phe), p.(Leu31Phe), p.(Leu84Phe)
1 Parent #2 ./. g.161326488C>A - SDHC_000019 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5631C>A, NM_001035512.1:c.161C>A, NM_001035513.1:c.104C>A, NM_001278172.1:c.140-5631C>A, NM_003001.3:c.263C>A r.(=), r.(?) p.(=), p.(Ser54*), p.(Ser35*), p.(Ser88*)
1 Parent #2 ./. g.161326520T>A - SDHC_000013 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5599T>A, NM_001035512.1:c.193T>A, NM_001035513.1:c.136T>A, NM_001278172.1:c.140-5599T>A, NM_003001.3:c.295T>A r.(=), r.(?) p.(=), p.(Tyr65Asn), p.(Tyr46Asn), p.(Tyr99Asn)
1 Parent #2 ./. g.161326531T>C - SDHC_000014 rs11547241 - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5588T>C, NM_001035512.1:c.204T>C, NM_001035513.1:c.147T>C, NM_001278172.1:c.140-5588T>C, NM_003001.3:c.306T>C r.(=) p.(=)
1 Parent #2 ./. g.161326532G>C - SDHC_000015 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5587G>C, NM_001035512.1:c.205G>C, NM_001035513.1:c.148G>C, NM_001278172.1:c.140-5587G>C, NM_003001.3:c.307G>C r.(=), r.(?) p.(=), p.(Val69Leu), p.(Val50Leu), p.(Val103Leu)
1 Parent #2 ./. g.161326564C>T - SDHC_000016 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5555C>T, NM_001035512.1:c.237C>T, NM_001035513.1:c.180C>T, NM_001278172.1:c.140-5555C>T, NM_003001.3:c.339C>T r.(=) p.(=)
1 Parent #2 ./. g.161326566A>T - SDHC_000017 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5553A>T, NM_001035512.1:c.239A>T, NM_001035513.1:c.182A>T, NM_001278172.1:c.140-5553A>T, NM_003001.3:c.341A>T r.(=), r.(?) p.(=), p.(His80Leu), p.(His61Leu), p.(His114Leu)
3 Parent #1 ./. 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.(=)
3 Parent #2 ./. g.37067095_37067102del - MLH1_000024 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
5 Parent #2 ./. g.1286469A>G - chr5_000002 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.6045600C>G - PMS2_000017 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.86G>C r.(?) p.(Gly29Ala)
7 Parent #2 ./. g.66453476A>T - SBDS_000017 rs79344818 - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.635T>A r.(?) p.(Ile212Asn)
8 Parent #2 ./. g.145740753G>A - RECQL4_000142 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1347C>T - p.?
9 Parent #2 ./. g.35079446G>A - FANCG_000024 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.76C>T r.(?) p.(Gln26*)
15 Parent #2 ./. g.91352464G>A - BLM_000030 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3849G>A r.(=) p.(=)
X Parent #2 ./. g.14861656A>G - FANCB_000001 - - - - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.*33T>C, NM_152633.2:c.*33T>C r.(=) p.(=)
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