Individual #00019493

Reference -
Gender F
Geographic origin Villia, Attica Region
Geographic origin Elefsina
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001148 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
2 Parent #2 ?/? g.58459258T>C - FANCL_000021 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.97-11A>G, NM_018062.3:c.97-11A>G r.(=) p.(=)
2 Parent #2 -/- g.128016978G>A - ERCC3_000015 rs4150521 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2111C>T r.(?) p.(Ser704Leu)
2 Parent #2 -?/-? g.233028241C>T - DIS3L2_000010 rs201122747 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1023C>T, NM_152383.4:c.1023C>T r.(=) p.(=)
2 Parent #2 ?/? g.233195514C>G - DIS3L2_000013 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
3 Parent #2 ?/? g.10070369T>C - FANCD2_000051 rs150075366 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.28T>C, NM_033084.3:c.28T>C r.(?) p.(Ser10Pro)
9 Parent #2 -/- g.135771835C>T - TSC1_000039 rs116747861 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.3282G>A, NM_001162426.1:c.3279G>A, NM_001162427.1:c.3129G>A r.(=) p.(=)
10 Parent #2 ?/? g.72358795C>T - PRF1_000031 rs762455764 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.682G>A, NM_005041.4:c.682G>A r.(?) p.(Glu228Lys)
16 Parent #2 ?/? g.14029453A>G - ERCC4_000036 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1664A>G r.(?) p.(His555Arg)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 ?/? g.29676104_29676105insTTGT - NF1_000182 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7127-34_7127-33insTTGT, NM_001042492.2:c.7190-34_7190-33insTTGT r.(=) p.(=)
X Parent #2 -/- g.14877419A>G - FANCB_000005 rs200161949 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.989T>C, NM_152633.2:c.989T>C r.(?) p.(Ile330Thr)
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