Individual #00018840

Reference -
Gender F
Geographic origin Zaros, Heraklion
Geographic origin Asia Minor
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     

BRCA/FH     

Subtype     

Owner     
0000010890 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002259 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     
2 Parent #2 ?/? g.215672527C>A - BARD1_000005 rs16852804 - Germline - - - - Despoina Kalfakakou BARD1 - NM_000465.2:c.158+1609G>T r.(=) p.(=)
6 Parent #2 ?/? g.35434105A>C - FANCE_000034 rs749697038 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1594A>C r.(?) p.(Lys532Gln)
8 Parent #2 ?/? g.145739135G>T - RECQL4_000083 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-39C>A - p.?
9 Parent #2 ?/? g.98248083T>C - PTCH1_000124 rs200729445 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.468A>G, NM_001083602.1:c.270A>G, NM_001083603.1:c.465A>G, NM_001083604.1:c.15A>G, NM_001083605.1:c.15A>G, NM_001083606.1:c.15A>G, NM_001083607.1:c.15A>G r.(=) p.(=)
9 Parent #2 ?/? g.100455925C>T - XPA_000019 - - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.283+6G>A r.(=) p.(=)
10 Parent #2 -?/-? g.72358722T>C - PRF1_000014 rs28933375 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
11 Parent #2 -?/-? g.108122700T>C - ATM_000023 rs2235006 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1744T>C r.(?) p.(Phe582Leu)
14 Parent #2 ./. g.36649202A>G - chr14_000003 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 -?/-? g.91308570C>T - BLM_000015 rs146077918 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2119C>T r.(?) p.(Pro707Ser)
16 Parent #2 -/- g.2111895G>A - TSC2_000239 rs45517155 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1143G>A, NM_001077183.1:c.1143G>A, NM_001114382.1:c.1143G>A r.(=) p.(=)
16 Parent #2 ?/? g.89869639A>G - FANCA_000192 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.792+28T>C, NM_001018112.1:c.792+28T>C r.(=) p.(=)
17 Parent #2 ?/? g.59761216A>G - BRIP1_000081 rs916937983 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.3191T>C r.(?) p.(Phe1064Ser)
Legend