Individual #00020893

Reference -
Gender F
Geographic origin Zakynthos
Geographic origin Syros
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases CAL, Schw
Owner name Despoina Kalfakakou


Phenotypes

Schwannoma (Schw)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012750 6y Cerebellum - - - Despoina Kalfakakou
0000012751 6y Acoustic Canal - - - Despoina Kalfakakou

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

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012749 0y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001564 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou
0000007513 DNA MLPA 1 NF2 1 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47639507del - MSH2_000052 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.646-46del, NM_001258281.1:c.448-46del r.(=) p.(=)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
5 Parent #2 ./. g.112176565T>A - APC_000001 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5274T>A, NM_001127510.2:c.5274T>A, NM_001127511.2:c.5220T>A r.(=) p.(=)
5 Parent #2 ./. g.176722355C>T - NSD1_000077 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7986C>T, NM_172349.2:c.7179C>T r.(=) p.(=)
10 Parent #2 ./. g.43595999C>A - RET_000039 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.166C>A, NM_020975.4:c.166C>A r.(?) p.(Leu56Met)
11 Parent #2 ./. g.44129273C>T - EXT2_000042 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.110C>T, NM_001178083.1:c.11C>T, NM_207122.1:c.11C>T r.(?) p.(Ser37Leu), p.(Ser4Leu)
13 Parent #2 ./. g.32911295G>A - BRCA2_000081 rs28897716 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2803G>A r.(?) p.(Asp935Asn)
15 Parent #2 ./. g.89857802C>A - FANCI_000110 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3721-41C>A, NM_018193.2:c.3541-41C>A r.(=) p.(=)
16 Parent #2 ./. g.89836222G>A - FANCA_000168 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2504+23C>T r.(=) p.(=)
17 Parent #2 ./. g.29576156_29576157del - NF1_000055 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4110+19_4110+20del, NM_001042492.2:c.4110+19_4110+20del r.(=) p.(=)
22 Unknown +/+ g.(?_29999545)_(30074313_30077427)del - NF2_000045 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. De novo - NF2 exons 1-14 deletion - - Despoina Kalfakakou NF2 - NM_000268.3:c.(?), NM_016418.5:c.(?), NM_181825.2:c.(?), NM_181828.2:c.(?), NM_181829.2:c.(?), NM_181830.2:c.(?), NM_181831.2:c.(?), NM_181832.2:c.(?), NM_181833.2:c.(?) r.(?) p.(?)
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