Individual #00019998

Reference -
Gender F
Geographic origin Pogoni, Ioannina
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CRC
Owner name Despoina Kalfakakou


Phenotypes

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subcategory     

Histology     

Grade     

Stage     

LN     

MSI     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012225 58y - - N/A Mucinous III - Positive High Yes No No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000643 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.128017009C>T - ERCC3_000009 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
3 Parent #2 ./. g.37067410G>A - MLH1_000011 rs63750365 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1321G>A, NM_001167617.1:c.1027G>A, NM_001167618.1:c.598G>A, NM_001167619.1:c.598G>A, NM_001258271.1:c.1321G>A, NM_001258273.1:c.598G>A, NM_001258274.1:c.598G>A r.(?) p.(Ala441Thr), p.(Ala343Thr), p.(Ala200Thr)
7 Parent #2 ./. g.55241682T>G - EGFR_000038 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2130T>G, NM_201284.1:c.*3445T>G r.(=) p.(=)
9 Parent #2 ./. g.98232081G>A - PTCH1_000016 - - - - - - - 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 Both (homozygous) ./. g.32913804G>A - BRCA2_000099 rs80358755 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5312G>A r.(?) p.(Gly1771Asp)
16 Parent #2 ./. g.2103372C>T - TSC2_000039 rs45517098 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 ./. g.68845553T>C - CDH1_000038 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.833-34T>C r.(=) p.(=)
16 Parent #2 ./. g.89986130T>C - chr16_000005 rs1110400 - - - - - - Despoina Kalfakakou - - - -
Legend