Individual #00020915

Reference -
Gender M
Geographic origin Athens
Geographic origin Mani
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BonMal, CAL
Owner name Despoina Kalfakakou


Phenotypes

Café au Lait spots (CAL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012793 - - - - Despoina Kalfakakou

Bone malformation (BonMal)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012794 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001577 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.45796894_45796896del - MUTYH_000068  rs587778541 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1392_1394del, NM_001048172.1:c.1353_1355del, NM_001048173.1:c.1350_1352del, NM_001048174.1:c.1350_1352del, NM_001128425.1:c.1434_1436del, NM_012222.2:c.1425_1427del r.(?) p.(Glu466del), p.(Glu453del), p.(Glu452del), p.(Glu480del), p.(Glu477del)
2 Parent #2 ?/? g.190738386C>T - PMS1_000040 rs374353438 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2634+4C>T, NM_001128143.1:c.2517+4C>T, NM_001128144.1:c.2148+4C>T r.spl? p.?
6 Parent #2 -/- g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
8 Parent #2 ?/? g.90996723T>C - NBN_000048 rs1805846 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.37+30A>G r.(=) p.(=)
10 Parent #2 -?/-? g.43609938C>T - RET_000001 rs781145070 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1890C>T, NM_020975.4:c.1890C>T r.(=) p.(=)
13 Parent #2 ?/? g.48916887A>G - RB1_000008 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ?/? g.48953701C>T - RB1_000010 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1333-29C>T r.(=) p.(=)
15 Parent #2 -?/-? g.91354640T>G - BLM_000007 rs183176301 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
17 Parent #2 +/+ g.29496913C>T - NF1_000260 rs1555607073 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.484C>T, NM_001042492.2:c.484C>T, NM_001128147.2:c.484C>T r.(?) p.(Gln162*)
17 Parent #2 -?/-? g.59760948A>G - BRIP1_000010 rs4987050 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.3459T>C r.(=) p.(=)
Legend