Individual #00022011

Reference -
Gender F
Geographic origin Valyra, Messini
Geographic origin -
Population -
Consanguinity -
Remarks -
Panel size 1
Diseases ColPol
Owner name Despoina Kalfakakou


Phenotypes

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000014076 61y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007025 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.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.128047859C>T - ERCC3_000038 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.472-10G>A r.(=) p.(=)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
8 Parent #2 ?/? g.90955501A>C - NBN_000015 - - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.2164T>G r.(?) p.(Trp722Gly)
8 Parent #2 ?/? g.145738644C>T - RECQL4_000070 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
9 Parent #2 ?/? g.135772175G>T - TSC1_000013 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2976-34C>A, NM_001162426.1:c.2973-34C>A, NM_001162427.1:c.2823-34C>A r.(=) p.(=)
11 Parent #2 ?/? g.108225607G>C - ATM_000256 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8850+6G>C r.(=) p.(=)
16 Parent #2 ?/? g.68772240C>G - CDH1_000026 rs876660408 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.89C>G r.(?) p.(Pro30Arg)
Legend