Individual #00020079

Reference -
Gender F
Geographic origin Grevena
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases GaPol
Owner name Despoina Kalfakakou


Phenotypes

Gastric Polyps (GaPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012352 45y - - - Serrated Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000732 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.58392880T>C - FANCL_000024 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.685A>G, NM_018062.3:c.670A>G r.(?) p.(Thr229Ala), p.(Thr224Ala)
2 Parent #2 ./. g.233201351_233201359del - DIS3L2_000045 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-6704_1582-6696del, NM_152383.4:c.*11_*19del r.(=) p.(=)
3 Parent #2 ./. g.52437944C>T - BAP1_000035 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1251-34G>A r.(=) p.(=)
8 Parent #2 ./. g.31001050A>G - WRN_000068 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3310-16A>G r.(=) p.(=)
8 Parent #2 ./. g.145737373C>T - RECQL4_000021 rs36078464 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3315G>A - p.?
11 Parent #2 ./. g.64572560C>T - MEN1_000003 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
13 Parent #2 ./. g.32912008G>A - BRCA2_000024 rs1799952 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3516G>A r.(=) p.(=)
14 Parent #2 ./. g.45605465C>T - FANCM_000060 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.231C>T r.(=) p.(=)
14 Parent #2 ./. g.95574727C>T - DICER1_000042 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.2370G>A, NM_001271282.1:c.2370G>A, NM_030621.3:c.2370G>A, NM_177438.2:c.2370G>A r.(=) p.(=)
16 Parent #2 ./. g.68842578C>T - CDH1_000008 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.532-18C>T r.(=) p.(=)
16 Parent #2 ./. g.68853297G>C - CDH1_000013 rs35741240 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1680G>C r.(=) p.(=)
17 Parent #2 ./. g.41249263G>A - BRCA1_000012 rs1799965 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.591C>T, NM_007297.3:c.450C>T, NM_007298.3:c.591C>T, NM_007299.3:c.591C>T, NM_007300.3:c.591C>T r.(=) p.(=)
19 Parent #2 ./. g.1226654C>T - STK11_000002 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.*8C>T r.(=) p.(=)
19 Parent #2 ./. g.45860604G>A - ERCC2_000045 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1403C>T, NM_001130867.1:c.*1514C>T r.(?), r.(=) p.(Pro468Leu), p.(=)
Legend