Individual #00017996

Reference -
Gender F
Geographic origin Chios
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     
0000010878 45y - - Ductal Invasive II N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002250 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     
2 Parent #2 ./. g.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
2 Parent #2 ./. g.232952240A>G - DIS3L2_000018 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.410A>G, NM_001257282.1:c.410A>G, NM_152383.4:c.410A>G r.(?) p.(Tyr137Cys)
3 Parent #2 ./. g.52436816T>G - BAP1_000021 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1962A>C r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112174239T>A - APC_000119 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.2948T>A, NM_001127510.2:c.2948T>A, NM_001127511.2:c.2894T>A r.(?) p.(Ile983Asn), p.(Ile965Asn)
7 Parent #2 ./. g.50466323C>T - chr7_000002 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.31004638G>A - WRN_000036 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3453G>A r.(=) p.(=)
11 Parent #2 ./. g.95546226G>C - CEP57_000002 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.306G>C, NM_001243777.1:c.333G>C, NM_014679.4:c.333G>C r.(?) p.(Gln102His), p.(Gln111His)
11 Parent #2 ./. g.108123551C>T - ATM_000024 rs2227922 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1810C>T r.(?) p.(Pro604Ser)
16 Parent #2 ./. g.2103485C>T - TSC2_000034 rs45517103 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.336+32C>T, NM_001077183.1:c.336+32C>T, NM_001114382.1:c.336+32C>T r.(=) p.(=)
16 Parent #2 ./. g.14026187A>G - ERCC4_000012 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1102+45A>G r.(=) p.(=)
16 Parent #2 ./. g.89869622G>A - FANCA_000216 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.792+45C>T, NM_001018112.1:c.792+45C>T r.(=) p.(=)
17 Parent #2 ./. g.74473001G>A - RHBDF2_000069 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1026C>T, NM_024599.5:c.1113C>T r.(=) p.(=)
17 Parent #2 ./. g.74473752G>A - RHBDF2_000070 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.788C>T, NM_024599.5:c.875C>T r.(?) p.(Ser263Phe), p.(Ser292Phe)
X Parent #2 ./. g.132826404C>T - GPC3_000010 rs41312608 - - - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1354G>A, NM_001164618.1:c.1237G>A, NM_001164619.1:c.1123G>A, NM_004484.3:c.1285G>A r.(?) p.(Val452Met), p.(Val413Met), p.(Val375Met), p.(Val429Met)
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