Individual #00017344

Reference -
Gender F
Geographic origin Petalidi, Mesinia
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     
0000009792 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001014 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou



Variants

4 entries on 1 page. Showing entries 1 - 4.
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.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
2 Parent #2 ?/? g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1001C>T, NM_001128143.1:c.884C>T, NM_001128144.1:c.1001C>T r.(?) p.(Thr334Met), p.(Thr295Met)
6 Parent #2 ./. g.31366612G>A - chr6_000051 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 -/- g.135778098T>C - TSC1_000042 rs118203670 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2285A>G, NM_001162426.1:c.2282A>G, NM_001162427.1:c.2132A>G r.(?) p.(Asn762Ser), p.(Asn761Ser), p.(Asn711Ser)
Legend