Individual #00016501

Reference -
Gender F
Geographic origin Karditsa
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000008610 45y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000216 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.58388611T>C - FANCL_000015 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.1035+46A>G, NM_018062.3:c.1020+46A>G r.(=) p.(=)
2 Parent #2 ?/? g.128046399C>T - ERCC3_000018 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.864G>A r.(=) p.(=)
3 Parent #2 ?/? g.14208789G>A - XPC_000017 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.426-36C>T, NM_004628.4:c.537-36C>T r.(=) p.(=)
5 Parent #2 ?/? g.176721614C>G - NSD1_000011 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7245C>G, NM_172349.2:c.6438C>G r.(=) p.(=)
6 Parent #2 ./. g.31263758G>A - chr6_000024 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145738886G>A - RECQL4_000008 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2201-22C>T - p.?
8 Parent #2 -/- g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1395G>A - p.?
13 Parent #2 +/+ g.32910982_32910983insT - BRCA2_000045 rs886040430 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2490_2491insT r.(?) p.(Val831Cysfs*2)
14 Parent #2 +/+ g.45636336C>T - FANCM_000016 rs368728266 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1972C>T r.(?) p.(Arg658*)
15 Parent #2 ?/? g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+43del, NM_018193.2:c.975+43del r.(=) p.(=)
15 Parent #1 ?/? g.89816743_89816744insAAA - FANCI_000029 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+43_975+44insAAA, NM_018193.2:c.975+43_975+44insAAA r.(=) p.(=)
19 Parent #2 -?/-? g.45860792G>A - ERCC2_000023 rs200588470 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1317C>T, NM_001130867.1:c.*1326C>T r.(=) p.(=)
Legend