Individual #00014785

Reference -
Gender F
Geographic origin Athens
Geographic origin Olympia
Population Greek
Consanguinity no
Remarks -
Panel ID 00014784
Panel size 4
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     
0000009251 72y - - Lobular Invasive III N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001649 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
5 Parent #2 ./. g.176715770del - NSD1_000006 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6152-50del, NM_172349.2:c.5345-50del r.(=) p.(=)
6 Parent #2 ./. g.475481G>A - chr6_000066 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.98211603C>T - PTCH1_000096 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3552G>A, NM_001083602.1:c.3354G>A, NM_001083603.1:c.3549G>A, NM_001083604.1:c.3099G>A, NM_001083605.1:c.3099G>A, NM_001083606.1:c.3099G>A, NM_001083607.1:c.3099G>A r.(=) p.(=)
9 Parent #2 ./. g.135777958C>T - TSC1_000002 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2391+34G>A, NM_001162426.1:c.2388+34G>A, NM_001162427.1:c.2238+34G>A r.(=) p.(=)
10 Parent #2 ./. g.72360613G>T - PRF1_000037 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.46C>A, NM_005041.4:c.46C>A r.(?) p.(Pro16Thr)
11 Parent #2 ./. g.32456784C>G - WT1_000005 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
16 Parent #2 ./. g.23635372A>C - PALB2_000003 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2792T>G r.(?) p.(Leu931Arg)
16 Parent #2 ./. g.89877305G>T - FANCA_000121 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.426+32C>A, NM_001018112.1:c.426+32C>A r.(=) p.(=)
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.(=)
22 Parent #2 ./. g.43500180T>C - chr22_000008 - - - - - - - Despoina Kalfakakou - - - -
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.(=)
Legend