Individual #00020632

Reference -
Gender F
Geographic origin Megalochori, Lesvos
Geographic origin Africa-UK-Sweden
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases NDL
Owner name Despoina Kalfakakou


Phenotypes

Nodules (NDL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013032 41y Thyroid - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001427 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.161310468A>G - SDHC_000023 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.241+23A>G, NM_001035512.1:c.139+23A>G, NM_001035513.1:c.82+23A>G, NM_001278172.1:c.139+23A>G, NM_003001.3:c.241+23A>G r.(=) p.(=)
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
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.(=)
3 Parent #1 ./. g.37067096_37067102del - MLH1_000005 rs71831268 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
3 Parent #2 ./. g.37067097_37067102del - MLH1_000042 rs71831268 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-31_1039-26del, NM_001167617.1:c.745-31_745-26del, NM_001167618.1:c.316-31_316-26del, NM_001167619.1:c.316-31_316-26del, NM_001258271.1:c.1039-31_1039-26del, NM_001258273.1:c.316-31_316-26del, NM_001258274.1:c.316-31_316-26del r.(=) p.(=)
3 Parent #2 ./. g.128200649G>A - GATA2_000017 - - - - - - - Despoina Kalfakakou GATA2 - NM_001145661.1:c.1143+13C>T, NM_001145662.1:c.1101+13C>T, NM_032638.4:c.1143+13C>T r.(=) p.(=)
5 Parent #2 ./. g.112102070T>C - APC_000090 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.183T>C, NM_001127510.2:c.183T>C, NM_001127511.2:c.213T>C r.(=) p.(=)
10 Parent #2 ./. g.43602066G>A - RET_000052 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1063+47G>A, NM_020975.4:c.1063+47G>A r.(=) p.(=)
11 Parent #2 ./. g.32450170G>A - WT1_000023 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.647-5C>T, NM_001198551.1:c.11-5C>T, NM_001198552.1:c.11-5C>T, NM_024424.3:c.647-5C>T, NM_024426.4:c.647-5C>T r.spl? p.?
11 Parent #2 ./. g.32456689T>A - WT1_000024 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.203A>T, NM_001198551.1:c.-4604A>T, NM_001198552.1:c.-4604A>T, NM_024424.3:c.203A>T, NM_024426.4:c.203A>T r.(?), r.(=) p.(Gln68Leu), p.(=)
13 Parent #2 ./. g.103515035C>T - ERCC5_000068 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1536C>T r.(=) p.(=)
13 Parent #2 ./. g.103515165T>G - ERCC5_000067 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1666T>G r.(?) p.(Phe556Val)
15 Parent #2 ./. g.91354640T>G - BLM_000007 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
16 Parent #2 ./. g.2124414A>T - TSC2_000242 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2545+24A>T, NM_001077183.1:c.2545+24A>T, NM_001114382.1:c.2545+24A>T r.(=) p.(=)
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