Individual #00016752

Reference -
Gender F
Geographic origin Russia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 8
Diseases BrCa, ENC
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     
0000008982 58y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000008983 52y - - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000407 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     
2 Parent #2 ./. g.233199473G>A - DIS3L2_000004 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 ./. g.10101998A>G - FANCD2_000046 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1677A>G, NM_033084.3:c.1677A>G r.(?) p.(Ile559Met)
5 Parent #2 ./. g.112174677T>C - APC_000027 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3386T>C, NM_001127510.2:c.3386T>C, NM_001127511.2:c.3332T>C r.(?) p.(Leu1129Ser), p.(Leu1111Ser)
6 Parent #2 ./. g.35426240_35426241insC - FANCE_000010 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1113+23_1113+24insC r.(=) p.(=)
9 Parent #2 ./. g.98002890A>G - FANCC_000004 - - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.345+41T>C, NM_001243743.1:c.345+41T>C, NM_001243744.1:c.345+41T>C r.(=) p.(=)
11 Parent #2 ./. g.64574995C>T - MEN1_000014 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.798+29G>A, NM_130799.2:c.783+29G>A, NM_130800.2:c.798+29G>A, NM_130801.2:c.798+29G>A, NM_130802.2:c.798+29G>A, NM_130803.2:c.798+29G>A, NM_130804.2:c.798+29G>A r.(=) p.(=)
16 Parent #2 ./. g.2100528A>G - TSC2_000088 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.225+41A>G, NM_001077183.1:c.225+41A>G, NM_001114382.1:c.225+41A>G r.(=) p.(=)
16 Parent #2 ./. g.23619279G>A - PALB2_000024 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.3256C>T r.(?) p.(Arg1086*)
16 Parent #2 ./. g.68835754G>A - CDH1_000006 rs1801023 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
17 Parent #2 ./. g.74470024G>T - RHBDF2_000014 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1575-40C>A, NM_024599.5:c.1662-40C>A r.(=) p.(=)
17 Parent #2 ./. g.74473867C>T - RHBDF2_000010 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.673G>A, NM_024599.5:c.760G>A r.(?) p.(Gly225Arg), p.(Gly254Arg)
Legend