Individual #00019323

Reference -
Gender M
Geographic origin Manesi, Messinia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00019322
Panel size 5
Diseases CRC
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000416 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.37067095A>T - MLH1_000004 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33A>T, NM_001167617.1:c.745-33A>T, NM_001167618.1:c.316-33A>T, NM_001167619.1:c.316-33A>T, NM_001258271.1:c.1039-33A>T, NM_001258273.1:c.316-33A>T, NM_001258274.1:c.316-33A>T r.(=) p.(=)
7 Parent #2 ?/? g.6042129G>A - PMS2_000033 rs35311046 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.492C>T r.(=) p.(=)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.6048592G>A - PMS2_000039 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.23+36C>T r.(=) p.(=)
10 Parent #2 -?/-? g.104309710C>A - SUFU_000008 rs201198734 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.318-17C>A, NM_016169.3:c.318-17C>A r.(=) p.(=)
11 Parent #2 ?/? g.108201108T>G - ATM_000003 rs56399857 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
11 Parent #2 ?/? g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
15 Parent #2 -/- g.91352413T>G - BLM_000029 rs138831180 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3798T>G r.(=) p.(=)
22 Parent #2 +?/+? g.29121242G>A - CHEK2_000025 rs137853007 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.562C>T, NM_001257387.1:c.-345C>T, NM_007194.3:c.433C>T, NM_145862.2:c.433C>T r.(=), r.(?) p.(Arg188Trp), p.(=), p.(Arg145Trp)
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