Individual #00019521

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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001339 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.14190268G>T - XPC_000039 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2140-37C>A, NM_004628.4:c.2251-37C>A r.(=) p.(=)
3 Both (homozygous) -?/-? g.37067096_37067100del - MLH1_000090 rs71831268 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-28del, NM_001167617.1:c.745-32_745-28del, NM_001167618.1:c.316-32_316-28del, NM_001167619.1:c.316-32_316-28del, NM_001258271.1:c.1039-32_1039-28del, NM_001258273.1:c.316-32_316-28del, NM_001258274.1:c.316-32_316-28del r.(=) p.(=)
5 Parent #2 ?/? g.112178148C>T - APC_000085 rs200587641 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.6857C>T, NM_001127510.2:c.6857C>T, NM_001127511.2:c.6803C>T r.(?) p.(Ala2286Val), p.(Ala2268Val)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
7 Parent #2 -?/-? g.148523562A>G - EZH2_000037 rs114765515 - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.891T>C, NM_001203248.1:c.864T>C, NM_001203249.1:c.864T>C, NM_004456.4:c.891T>C, NM_152998.2:c.774T>C r.(=) p.(=)
8 Parent #2 -?/-? g.30924558A>C - WRN_000040 rs367991517 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.514A>C r.(?) p.(Thr172Pro)
16 Parent #2 -/- g.2120561G>A - TSC2_000224 rs149543046 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1821G>A, NM_001077183.1:c.1821G>A, NM_001114382.1:c.1821G>A r.(=) p.(=)
16 Parent #2 ?/? g.2136907G>T - TSC2_000031 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4989+35G>T, NM_001077183.1:c.4788+35G>T, NM_001114382.1:c.4920+35G>T r.(=) p.(=)
X Parent #2 -/- g.14861656A>G - FANCB_000001 rs187611308 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.*33T>C, NM_152633.2:c.*33T>C r.(=) p.(=)
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