Individual #00020790

Reference -
Gender M
Geographic origin Heraklion, Crete
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Schw
Owner name Despoina Kalfakakou


Phenotypes

Schwannoma (Schw)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012582 - - - - Despoina Kalfakakou

CafĂ© au Lait spots (CAL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012583 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001482 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.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145G>A, NM_001048172.1:c.1106G>A, NM_001048173.1:c.1103G>A, NM_001048174.1:c.1103G>A, NM_001128425.1:c.1187G>A, NM_012222.2:c.1178G>A r.(?) p.(Gly382Asp), p.(Gly369Asp), p.(Gly368Asp), p.(Gly396Asp), p.(Gly393Asp)
2 Parent #2 ?/? g.48033871C>T - MSH6_000071 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.4002-47C>T, NM_001281492.1:c.3612-47C>T, NM_001281493.1:c.3096-47C>T, NM_001281494.1:c.3096-47C>T r.(=) p.(=)
3 Parent #2 ?/? g.37089991C>G - MLH1_000056 rs2308316 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1897-17C>G, NM_001167617.1:c.1603-17C>G, NM_001167618.1:c.1174-17C>G, NM_001167619.1:c.1174-17C>G, NM_001258271.1:c.1896+817C>G, NM_001258273.1:c.1174-17C>G, NM_001258274.1:c.1174-17C>G r.(=) p.(=)
3 Parent #2 -?/-? g.52436459T>G - BAP1_000012 rs144083199 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.2057-22A>C r.(=) p.(=)
9 Parent #2 -?/-? g.97888804C>T - FANCC_000037 rs1554833182 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.896+7G>A, NM_001243743.1:c.896+7G>A, NM_001243744.1:c.896+7G>A r.(=) p.(=)
9 Parent #2 ?/? g.98247946G>A - PTCH1_000094 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.584+21C>T, NM_001083602.1:c.386+21C>T, NM_001083603.1:c.581+21C>T, NM_001083604.1:c.131+21C>T, NM_001083605.1:c.131+21C>T, NM_001083606.1:c.131+21C>T, NM_001083607.1:c.131+21C>T r.(=) p.(=)
9 Parent #2 -?/-? g.100459392G>A - XPA_000021 rs766386535 - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.172+11C>T r.(=) p.(=)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.48947553C>T - RB1_000062 rs117865557 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1140C>T r.(=) p.(=)
15 Parent #2 ?/? g.91312388C>G - BLM_000011 rs139610577 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2333C>G r.(?) p.(Ser778Cys)
22 Parent #2 -?/-? g.30069341C>T - NF2_000002 rs137953976 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1206C>T, NM_016418.5:c.1206C>T, NM_181825.2:c.1206C>T, NM_181828.2:c.1080C>T, NM_181829.2:c.1083C>T, NM_181830.2:c.957C>T, NM_181831.2:c.957C>T, NM_181832.2:c.1206C>T, NM_181833.2:c.448-21400C>T r.(=) p.(=)
Legend