Individual #00016731

Reference -
Gender F
Geographic origin Levidi, Tripoli
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00016730
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     
0000008952 48y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000387 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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     
2 Parent #2 ./. g.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ./. g.37067449G>C - MLH1_000035 rs63750527 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1360G>C, NM_001167617.1:c.1066G>C, NM_001167618.1:c.637G>C, NM_001167619.1:c.637G>C, NM_001258271.1:c.1360G>C, NM_001258273.1:c.637G>C, NM_001258274.1:c.637G>C r.(?) p.(Gly454Arg), p.(Gly356Arg), p.(Gly213Arg)
6 Parent #2 ./. g.475517A>G - chr6_000033 rs1877773 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.6026708C>A - PMS2_000001 rs63750668 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
7 Parent #2 ./. g.6043434G>C - PMS2_000036 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.251-11C>G r.(=) p.(=)
7 Parent #2 ./. g.6043552G>A - PMS2_000037 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.250+51C>T r.(=) p.(=)
10 Parent #2 ./. g.43619248C>G - RET_000014 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2931C>G, NM_020975.4:c.2931C>G r.(?) p.(Ser977Arg)
10 Parent #2 ./. g.88659672G>A - BMPR1A_000002 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
10 Parent #2 ./. g.88679035A>G - BMPR1A_000003 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.975A>G r.(=) p.(=)
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 ./. g.103514350A>G - ERCC5_000018 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.881-30A>G r.(=) p.(=)
16 Parent #2 ./. g.68842734C>T - CDH1_000018 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.670C>T r.(?) p.(Arg224Cys)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.29556982A>T - NF1_000107 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2980A>T, NM_001042492.2:c.2980A>T r.(?) p.(Asn994Tyr)
17 Parent #2 ./. g.29559836A>G - NF1_000054 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3433A>G, NM_001042492.2:c.3433A>G r.(?) p.(Thr1145Ala)
17 Parent #2 ./. g.29559838G>A - NF1_000053 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3435G>A, NM_001042492.2:c.3435G>A r.(=) p.(=)
17 Parent #2 ./. g.29585495A>G - NF1_000089 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4244A>G, NM_001042492.2:c.4307A>G r.(?) p.(Glu1415Gly), p.(Glu1436Gly)
17 Parent #2 ./. g.29588678G>C - NF1_000116 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4515-51G>C, NM_001042492.2:c.4578-51G>C r.(=) p.(=)
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