Individual #00016429

Reference -
Gender F
Geographic origin Karditsa
Geographic origin -
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     
0000008505 51y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000152 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
1 Parent #2 ?/? g.45798541G>A - MUTYH_000010 - - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.463-35C>T, NM_001048172.1:c.424-35C>T, NM_001048173.1:c.421-35C>T, NM_001048174.1:c.421-35C>T, NM_001128425.1:c.505-35C>T, NM_012222.2:c.496-35C>T r.(=) p.(=)
3 Both (homozygous) -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
6 Parent #2 ./. g.31263758G>A - chr6_000024 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.160833623T>C - chr6_000026 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128424757G>T - chr8_000009 rs76573300 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145738804C>T - RECQL4_000034 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2261G>A - p.?
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
11 Parent #2 ?/? g.67254522G>T - AIP_000008 rs1063385 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.145G>T r.(?) p.(Val49Leu)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
17 Parent #2 ?/? g.41258590T>A - BRCA1_000020 - - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.135-40A>T, NM_007297.3:c.-7-40A>T, NM_007298.3:c.135-40A>T, NM_007299.3:c.135-40A>T, NM_007300.3:c.135-40A>T r.(=) p.(=)
17 Parent #2 ?/? g.66511747T>G - PRKAR1A_000002 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.177+30T>G, NM_001276290.1:c.177+30T>G, NM_002734.4:c.177+30T>G, NM_212471.2:c.177+30T>G, NM_212472.2:c.177+30T>G r.(=) p.(=)
19 Parent #2 -?/-? g.1221287G>A - STK11_000006 rs1297520176 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.810G>A r.(=) p.(=)
19 Parent #2 ?/? g.1221288A>T - STK11_000007 - - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.811A>T r.(?) p.(Ser271Cys)
Legend