Individual #00020576

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases TRC
Owner name Despoina Kalfakakou


Phenotypes

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

Subtype     

Owner     
0000012415 30y - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001322 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.232995439T>G - DIS3L2_000015 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+10T>G, NM_001257282.1:c.712T>G, NM_152383.4:c.702+10T>G r.(=), r.(?) p.(=), p.(Tyr238Asp)
2 Parent #2 ./. g.233195388A>G - DIS3L2_000073 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12667A>G, NM_152383.4:c.1924-12A>G r.(=) p.(=)
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.145738620T>G - RECQL4_000150 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2445A>C - p.?
8 Parent #2 ./. g.145738885T>C - RECQL4_000151 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2201-21A>G - p.?
9 Parent #2 ./. g.98002890A>G - FANCC_000004 - - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.345+41T>C, NM_001243743.1:c.345+41T>C, NM_001243744.1:c.345+41T>C r.(=) p.(=)
10 Parent #2 ./. g.72360140C>T - PRF1_000005 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.519G>A, NM_005041.4:c.519G>A r.(=) p.(=)
10 Parent #2 ./. g.72360291C>T - PRF1_000006 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.368G>A, NM_005041.4:c.368G>A r.(?) p.(Arg123His)
11 Parent #2 ./. g.67250676G>A - AIP_000009 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
16 Parent #2 ./. g.2106246G>T - TSC2_000228 rs45488893 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.648+1G>T, NM_001077183.1:c.648+1G>T, NM_001114382.1:c.648+1G>T r.spl? p.?
16 Parent #2 ./. g.3658881G>A - SLX4_000080 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.85C>T r.(?) p.(Arg29Cys)
20 Parent #2 ./. g.62309839A>G - chr20_000006 rs6010620 - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 ./. g.24129331T>C - SMARCB1_000016 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.-26T>C, NM_003073.3:c.-26T>C r.(=) p.(=)
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