Individual #00020898

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


Phenotypes

Meningioma (MNGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012755 5y - - - Despoina Kalfakakou

Schwannoma (Schw)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012756 5y - - - Despoina Kalfakakou
0000012757 5y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001568 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.233128100A>G - DIS3L2_000083 rs954655897 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1581+28A>G, NM_152383.4:c.1609A>G r.(=), r.(?) p.(=), p.(Lys537Glu)
3 Parent #2 +/+ g.14209830G>A - XPC_000053 rs755825264 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.406-54C>T, NM_004628.4:c.463C>T r.(=), r.(?) p.(=), p.(Arg155*)
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
8 Parent #2 -?/-? g.30999079A>T - WRN_000051 rs200370409 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3101A>T r.(?) p.(Tyr1034Phe)
8 Parent #2 ?/? g.145739430C>A - RECQL4_000094 rs372664774 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1940G>T - p.?
9 Parent #2 -?/-? g.98232081G>A - PTCH1_000016 rs202007968 - Germline - - - - 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.(=)
22 Parent #2 -?/-? g.29115487G>A - CHEK2_000063 rs145754558 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.722-14C>T, NM_001257387.1:c.-71-14C>T, NM_007194.3:c.593-14C>T, NM_145862.2:c.593-14C>T r.(=) p.(=)
22 Parent #2 +/+ g.30038257_30038258insA - NF2_000036 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.430_431insA, NM_016418.5:c.430_431insA, NM_181825.2:c.430_431insA, NM_181828.2:c.304_305insA, NM_181829.2:c.307_308insA, NM_181830.2:c.181_182insA, NM_181831.2:c.181_182insA, NM_181832.2:c.430_431insA, NM_181833.2:c.430_431insA r.(?) p.(Tyr144*), p.(Tyr102*), p.(Tyr103*), p.(Tyr61*)
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