Individual #00020218

Reference -
Gender F
Geographic origin Corinthia
Geographic origin Lesvos
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     
0000001468 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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.17355218A>G - SDHB_000003 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
2 Parent #2 ./. g.29416799G>A - ALK_000050 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4165-11C>T r.(=) p.(=)
2 Parent #2 ./. g.190660533C>T - PMS1_000020 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.171C>T, NM_001128143.1:c.171C>T, NM_001128144.1:c.171C>T r.(=) p.(=)
2 Parent #2 ./. g.190718940A>C - PMS1_000007 rs5743137 - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.967-25A>C, NM_001128143.1:c.850-25A>C, NM_001128144.1:c.967-25A>C r.(=) p.(=)
3 Parent #2 ./. g.10106021G>T - FANCD2_000114 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1948-19G>T, NM_033084.3:c.1948-19G>T r.(=) p.(=)
3 Parent #2 ./. g.37067100del - MLH1_000061 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-28del, NM_001167617.1:c.745-28del, NM_001167618.1:c.316-28del, NM_001167619.1:c.316-28del, NM_001258271.1:c.1039-28del, NM_001258273.1:c.316-28del, NM_001258274.1:c.316-28del r.(=) p.(=)
3 Parent #1 ./. g.37067100_37067101insTTT - MLH1_000100 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-28_1039-27insTTT, NM_001167617.1:c.745-28_745-27insTTT, NM_001167618.1:c.316-28_316-27insTTT, NM_001167619.1:c.316-28_316-27insTTT, NM_001258271.1:c.1039-28_1039-27insTTT, NM_001258273.1:c.316-28_316-27insTTT, NM_001258274.1:c.316-28_316-27insTTT r.(=) p.(=)
7 Parent #2 ./. g.6026827G>C - PMS2_000024 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1569C>G r.(=) p.(=)
7 Parent #2 ./. g.66453514A>C - SBDS_000022 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-28T>G r.(=) p.(=)
9 Parent #2 ./. g.135781376C>G - TSC1_000064 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1589G>C, NM_001162426.1:c.1586G>C, NM_001162427.1:c.1436G>C r.(?) p.(Ser530Thr), p.(Ser529Thr), p.(Ser479Thr)
13 Parent #2 ./. g.32906593C>A - BRCA2_000041 rs28897706 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.978C>A r.(?) p.(Ser326Arg)
14 Parent #2 ./. g.45633621A>G - FANCM_000098 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1641A>G r.(=) p.(=)
16 Parent #2 ./. g.14020561G>T - ERCC4_000048 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.532G>T r.(?) p.(Val178Leu)
16 Parent #2 ./. g.68862058G>C - CDH1_000053 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2165-19G>C r.(=) p.(=)
16 Parent #2 ./. g.89805301G>C - FANCA_000063 rs17227403 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4249C>G r.(?) p.(His1417Asp)
17 Parent #2 ./. g.41243424G>A - BRCA1_000114 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4096+28C>T, NM_007297.3:c.3955+28C>T, NM_007298.3:c.788-375C>T, NM_007299.3:c.788-375C>T, NM_007300.3:c.4096+28C>T r.(=) p.(=)
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