Individual #00018839

Reference -
Gender F
Geographic origin Rhodes
Geographic origin Pelion
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     
0000010889 72y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002258 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.29450392G>A - ALK_000122 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2914+48C>T r.(=) p.(=)
2 Parent #2 -?/-? g.48033829C>G - MSH6_000004 rs201482798 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.4001+39C>G, NM_001281492.1:c.3611+39C>G, NM_001281493.1:c.3095+39C>G, NM_001281494.1:c.3095+39C>G r.(=) p.(=)
2 Parent #2 ?/? g.128046428C>T - ERCC3_000072 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.835G>A r.(?) p.(Glu279Lys)
3 Parent #2 ?/? g.14193816_14193817insC - XPC_000022 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2004+18_2004+19insG, NM_004628.4:c.2115+18_2115+19insG r.(=) p.(=)
3 Parent #2 ?/? g.14206880C>T - XPC_000015 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.668+48G>A, NM_004628.4:c.779+48G>A r.(=) p.(=)
9 Parent #2 -?/-? g.98232081G>A - PTCH1_000016 rs202007968 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1847+14C>T, NM_001083602.1:c.1649+14C>T, NM_001083603.1:c.1844+14C>T, NM_001083604.1:c.1394+14C>T, NM_001083605.1:c.1394+14C>T, NM_001083606.1:c.1394+14C>T, NM_001083607.1:c.1394+14C>T r.(=) p.(=)
13 Parent #2 ./. g.35252846C>A - chr13_000002 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -/- g.2134982_2134984del - TSC2_000085 rs137854239 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4524_4526del, NM_001077183.1:c.4323_4325del, NM_001114382.1:c.4455_4457del r.(?) p.(Phe1510del), p.(Phe1443del), p.(Phe1487del)
Legend