Individual #00017851

Reference -
Gender F
Geographic origin Athens
Geographic origin Naxos
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     
0000010630 36y - - Ductal In Situ II N/A N/A N/A N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001970 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.48030640dup - MSH6_000090 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3254dup, NM_001281492.1:c.2864dup, NM_001281493.1:c.2348dup, NM_001281494.1:c.2348dup r.(?) p.(Phe1088Leufs*5), p.(Phe958Leufs*5), p.(Phe786Leufs*5)
2 Parent #2 ./. g.58459236G>C - FANCL_000033 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.108C>G, NM_018062.3:c.108C>G r.(?) p.(Phe36Leu)
5 Both (homozygous) ./. g.112175065A>G - APC_000112 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3774A>G, NM_001127510.2:c.3774A>G, NM_001127511.2:c.3720A>G r.(=) p.(=)
5 Parent #2 ./. g.176721445C>T - NSD1_000094 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7076C>T, NM_172349.2:c.6269C>T r.(?) p.(Pro2359Leu), p.(Pro2090Leu)
8 Parent #2 ./. g.145737131C>G - RECQL4_000120 rs61755066 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3436G>C - p.?
9 Parent #2 ./. g.98220364G>A - PTCH1_000009 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3099C>T, NM_001083602.1:c.2901C>T, NM_001083603.1:c.3096C>T, NM_001083604.1:c.2646C>T, NM_001083605.1:c.2646C>T, NM_001083606.1:c.2646C>T, NM_001083607.1:c.2646C>T r.(=) p.(=)
9 Parent #2 ./. g.100459392G>A - XPA_000021 - - - - - - - Despoina Kalfakakou XPA - NM_000380.3:c.172+11C>T r.(=) p.(=)
10 Parent #2 ./. g.88659672G>A - BMPR1A_000002 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
13 Parent #2 ./. g.49039095del - RB1_000023 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ./. g.49039095dup - RB1_000022 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
13 Parent #2 ./. g.103508459A>G - ERCC5_000082 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.525A>G r.(=) p.(=)
13 Parent #2 ./. g.103527931G>A - ERCC5_000085 rs4150388 - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.3239G>A r.(?) p.(Gly1080Glu)
16 Parent #2 ./. g.89836478C>A - FANCA_000138 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2317-46G>T r.(=) p.(=)
17 Parent #2 ./. g.29687460A>C - NF1_000208 rs17879551 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.8098-45A>C, NM_001042492.2:c.8161-45A>C r.(=) p.(=)
17 Parent #2 ./. g.59938865C>A - BRIP1_000052 rs45566938 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.36G>T r.(=) p.(=)
Legend