Individual #00017097

Reference -
Gender F
Geographic origin Karpathos
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     
0000009442 46y - - Other N/A III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000818 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
1 Parent #2 ./. g.17345421G>A - SDHB_000015 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.798C>T r.(=) p.(=)
2 Parent #2 ./. g.58392939A>G - FANCL_000026 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.626T>C, NM_018062.3:c.611T>C r.(?) p.(Met209Thr), p.(Met204Thr)
3 Parent #2 ./. g.14190268G>T - XPC_000039 rs2470353 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2140-37C>A, NM_004628.4:c.2251-37C>A r.(=) p.(=)
5 Parent #2 ./. g.176638492G>A - NSD1_000046 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.3092G>A, NM_172349.2:c.2285G>A r.(?) p.(Arg1031Gln), p.(Arg762Gln)
5 Parent #2 ./. g.176707724C>G - NSD1_000002 rs61749654 - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.5781C>G, NM_172349.2:c.4974C>G r.(=) p.(=)
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.55238941G>A - EGFR_000004 rs17290246 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
9 Parent #2 ./. g.35077249T>C - FANCG_000018 rs17878604 - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.646+12A>G r.(=) p.(=)
11 Parent #2 ./. g.108203640T>A - ATM_000014 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7927+13T>A r.(=) p.(=)
14 Parent #2 ./. g.45665477G>A - FANCM_000058 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5443G>A r.(?) p.(Gly1815Arg)
17 Parent #2 ./. g.7578146T>C - TP53_000002 rs34949160 - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.672+31A>G, NM_001126112.2:c.672+31A>G, NM_001126113.2:c.672+31A>G, NM_001126114.2:c.672+31A>G, NM_001126115.1:c.276+31A>G, NM_001126116.1:c.276+31A>G, NM_001126117.1:c.276+31A>G, NM_001126118.1:c.555+31A>G, NM_001276695.1:c.555+31A>G, NM_001276696.1:c.555+31A>G, NM_001276697.1:c.195+31A>G, NM_001276698.1:c.195+31A>G, NM_001276699.1:c.195+31A>G, NM_001276760.1:c.555+31A>G, NM_001276761.1:c.555+31A>G r.(=) p.(=)
17 Parent #2 ./. g.29556390T>C - NF1_000059 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2757T>C, NM_001042492.2:c.2757T>C r.(=) p.(=)
Legend