Individual #00020681

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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001330 DNA SEQ-NG-I 1 - 13 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     
3 Parent #2 ./. g.10094195T>A - FANCD2_000011 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
3 Parent #2 ./. g.37035129G>T - MLH1_000045 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.91G>T, NM_001167617.1:c.-426G>T, NM_001167618.1:c.-855G>T, NM_001167619.1:c.-768G>T, NM_001258271.1:c.91G>T, NM_001258273.1:c.-542G>T, NM_001258274.1:c.-1005G>T r.(?), r.(=) p.(Ala31Ser), p.(=)
3 Parent #2 ./. g.37035130C>G - MLH1_000028 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.92C>G, NM_001167617.1:c.-425C>G, NM_001167618.1:c.-854C>G, NM_001167619.1:c.-767C>G, NM_001258271.1:c.92C>G, NM_001258273.1:c.-541C>G, NM_001258274.1:c.-1004C>G r.(?), r.(=) p.(Ala31Gly), p.(=)
3 Parent #2 ./. g.37067449G>C - MLH1_000035 rs63750527 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1360G>C, NM_001167617.1:c.1066G>C, NM_001167618.1:c.637G>C, NM_001167619.1:c.637G>C, NM_001258271.1:c.1360G>C, NM_001258273.1:c.637G>C, NM_001258274.1:c.637G>C r.(?) p.(Gly454Arg), p.(Gly356Arg), p.(Gly213Arg)
7 Parent #2 ./. g.55249190T>C - EGFR_000052 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2469+19T>C r.(=) p.(=)
8 Parent #2 ./. g.128424757G>T - chr8_000009 rs76573300 - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.98231110G>A - PTCH1_000015 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
9 Parent #2 ./. g.135778134C>T - TSC1_000051 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2249G>A, NM_001162426.1:c.2246G>A, NM_001162427.1:c.2096G>A r.(?) p.(Trp750*), p.(Trp749*), p.(Trp699*)
11 Parent #2 ./. g.22646421T>A - FANCF_000005 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.936A>T r.(?) p.(Gln312His)
14 Parent #2 ./. g.45654460C>A - FANCM_000084 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4556C>A r.(?) p.(Ser1519Tyr)
17 Parent #2 ./. g.29508818G>T - NF1_000024 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.730+15G>T, NM_001042492.2:c.730+15G>T, NM_001128147.2:c.730+15G>T r.(=) p.(=)
17 Both (homozygous) ./. g.29563085_29563086insTG - NF1_000027 rs56874702 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3974+46_3974+47insTG, NM_001042492.2:c.3974+46_3974+47insTG r.(=) p.(=)
17 Parent #2 ./. g.29679412C>T - NF1_000230 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7532C>T, NM_001042492.2:c.7595C>T r.(?) p.(Ala2511Val), p.(Ala2532Val)
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