Individual #00020918

Reference -
Gender M
Geographic origin Kalamata
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CMM3, CRC
Owner name Despoina Kalfakakou


Phenotypes

Melanoma, cutaneous malignant, 3 (CMM3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Subtype     

Owner     
0000012800 25y - - - - - Despoina Kalfakakou
0000012801 36y - - - - - Despoina Kalfakakou

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     
0000012799 36y - - Right Side Mucinous II III Positive Low - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001579 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.121280606C>T - chr1_000002 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ./. g.14219967C>T - XPC_000054 rs72561774 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.102G>A, NM_004628.4:c.102G>A r.(=) p.(=)
5 Parent #2 ./. g.176637182T>C - NSD1_000081 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1782T>C, NM_172349.2:c.975T>C r.(=) p.(=)
8 Parent #2 ./. g.145737126A>G - RECQL4_000170 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3441T>C - p.?
13 Parent #2 ./. g.32893263T>A - BRCA2_000199 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.117T>A r.(=) p.(=)
13 Parent #2 ./. g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ./. g.48953701C>T - RB1_000010 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1333-29C>T r.(=) p.(=)
13 Parent #2 ./. g.49050826G>A - RB1_000001 rs4151624 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
14 Parent #2 ./. g.95590785G>C - DICER1_000020 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1124C>G, NM_001271282.1:c.1124C>G, NM_030621.3:c.1124C>G, NM_177438.2:c.1124C>G r.(?) p.(Pro375Arg)
17 Parent #2 ./. g.29683645_29683646insACT - NF1_000030 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7675+45_7675+46insACT, NM_001042492.2:c.7738+45_7738+46insACT r.(=) p.(=)
17 Parent #2 ./. g.74473698C>A - RHBDF2_000003 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
Legend