Individual #00016600

Reference -
Gender F
Geographic origin Galatas, Troizinia
Geographic origin Athens
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     
0000008757 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000296 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
4 Parent #2 ?/? g.55598212del - KIT_000007 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48del, NM_001093772.1:c.2349+48del r.(=) p.(=)
4 Parent #1 ?/? g.55598212dup - KIT_000006 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48dup, NM_001093772.1:c.2349+48dup r.(=) p.(=)
5 Parent #2 ./. g.56031906A>G - chr5_000009 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.30954413T>C - WRN_000043 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1981+47T>C r.(=) p.(=)
11 Parent #2 -/- g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.306G>C, NM_001243777.1:c.333G>C, NM_014679.4:c.333G>C r.(?) p.(Gln102His), p.(Gln111His)
11 Parent #2 -?/-? g.108175545G>A - ATM_000066 rs757103582 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5640G>A r.(=) p.(=)
16 Parent #2 -?/-? g.89845197G>A - FANCA_000005 rs183513839 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
17 Parent #2 ?/? g.17127506C>T - FLCN_000015 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.397-49G>A, NM_144997.5:c.397-49G>A r.(=) p.(=)
Legend