Individual #00016573

Reference -
Gender F
Geographic origin Kato Achaia
Geographic origin Thessaly
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     
0000008712 30y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000277 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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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.241672061C>T - FH_000001 - - - - - - - Despoina Kalfakakou FH - NM_000143.3:c.580G>A r.(?) p.(Ala194Thr)
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 ./. g.14190228G>T - XPC_000021 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2143C>A, NM_004628.4:c.2254C>A r.(?) p.(Pro715Thr), p.(Pro752Thr)
3 Parent #2 ./. g.37067102T>A - MLH1_000007 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-26T>A, NM_001167617.1:c.745-26T>A, NM_001167618.1:c.316-26T>A, NM_001167619.1:c.316-26T>A, NM_001258271.1:c.1039-26T>A, NM_001258273.1:c.316-26T>A, NM_001258274.1:c.316-26T>A r.(=) p.(=)
5 Parent #2 ./. g.176721721G>A - NSD1_000012 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7352G>A, NM_172349.2:c.6545G>A r.(?) p.(Arg2451Lys), p.(Arg2182Lys)
9 Parent #2 ./. g.35075115C>T - FANCG_000007 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1481-36G>A r.(=) p.(=)
9 Parent #2 ./. g.98231110G>A - PTCH1_000015 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
10 Parent #2 ./. g.51549533T>G - chr10_000002 rs41274660 - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.32972280G>A - BRCA2_000016 rs11571830 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9649-19G>A r.(=) p.(=)
13 Parent #2 ./. g.103510774A>G - ERCC5_000017 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.672+6A>G r.(=) p.(=)
15 Parent #2 ./. g.89825056A>G - FANCI_000018 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1573A>G, NM_018193.2:c.1573A>G r.(?) p.(Met525Val)
16 Parent #2 ./. g.68835823C>T - CDH1_000007 rs33932809 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.387+27C>T r.(=) p.(=)
17 Parent #2 ./. g.29677184C>T - NF1_000028 rs17884859 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7259-17C>T, NM_001042492.2:c.7322-17C>T r.(=) p.(=)
17 Parent #2 ./. g.41249323C>A - BRCA1_000045 rs80358014 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.548-17G>T, NM_007297.3:c.407-17G>T, NM_007298.3:c.548-17G>T, NM_007299.3:c.548-17G>T, NM_007300.3:c.548-17G>T r.(=) p.(=)
17 Parent #2 ./. g.59924512C>T - BRIP1_000004 rs4988346 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
17 Parent #2 ./. g.66526629T>G - PRKAR1A_000006 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.*39T>G, NM_001276290.1:c.973+487T>G, NM_002734.4:c.*39T>G, NM_212471.2:c.*39T>G, NM_212472.2:c.*39T>G r.(=) p.(=)
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