Individual #00016901

Reference -
Gender F
Geographic origin Pontus
Geographic origin Kozani
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     
0000009181 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000648 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
4 Parent #2 -/- g.55602912G>A - KIT_000008 rs55817813 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2622G>A, NM_001093772.1:c.2610G>A r.(=) p.(=)
5 Parent #2 ?/? g.176636955G>A - NSD1_000043 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1555G>A, NM_172349.2:c.748G>A r.(?) p.(Glu519Lys), p.(Glu250Lys)
7 Parent #2 ?/? g.55268930G>A - EGFR_000040 rs149248025 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2996G>A r.(?) p.(Arg999His)
8 Parent #2 ?/? g.31012233A>G - WRN_000053 rs201661079 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3781A>G r.(?) p.(Ile1261Val)
8 Parent #2 ?/? g.145739449T>C - RECQL4_000013 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1921A>G - p.?
9 Parent #2 -?/-? g.98239024_98239026del - PTCH1_000027 rs528001004 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1602+15_1602+17del, NM_001083602.1:c.1404+15_1404+17del, NM_001083603.1:c.1599+15_1599+17del, NM_001083604.1:c.1149+15_1149+17del, NM_001083605.1:c.1149+15_1149+17del, NM_001083606.1:c.1149+15_1149+17del, NM_001083607.1:c.1149+15_1149+17del r.(=) p.(=)
17 Parent #2 ?/? g.17118668C>A - FLCN_000006 rs368141995 - Germline - - - - Despoina Kalfakakou FLCN - NM_144997.5:c.1301-38G>T r.(=) p.(=)
17 Parent #2 ?/? g.56774080T>C - RAD51C_000018 rs28363307 - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.*1526T>C, NM_058216.2:c.431T>C r.(=), r.(?) p.(=), p.(Ile144Thr)
22 Parent #2 -?/-? g.30070924G>A - NF2_000021 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1440G>A, NM_016418.5:c.1440G>A, NM_181825.2:c.1440G>A, NM_181828.2:c.1314G>A, NM_181829.2:c.1317G>A, NM_181830.2:c.1191G>A, NM_181831.2:c.1191G>A, NM_181832.2:c.1440G>A, NM_181833.2:c.448-19817G>A r.(=) p.(=)
Legend