Individual #00016903

Reference -
Gender M
Geographic origin Graika, Elis
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     
0000009183 73y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000651 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.161293444C>G - SDHC_000009 rs1553261768 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.61C>G, NM_001035512.1:c.61C>G, NM_001035513.1:c.20+9229C>G, NM_001278172.1:c.61C>G, NM_003001.3:c.61C>G r.(?), r.(=) p.(Gln21Glu), p.(=)
2 Parent #2 ./. g.213296864G>A - chr2_000016 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.116418845G>C - MET_000028 rs201037977 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3356G>C, NM_001127500.1:c.3410G>C r.(?) p.(Gly1119Ala), p.(Gly1137Ala)
13 Parent #2 ?/? g.103498672C>T - ERCC5_000012 rs34291397 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.56C>T r.(?) p.(Pro19Leu)
17 Parent #2 ?/? g.74471269A>G - RHBDF2_000023 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1116-46T>C, NM_024599.5:c.1203-46T>C r.(=) p.(=)
Legend