Individual #00020213

Reference -
Gender F
Geographic origin Kalamata
Geographic origin Ilia
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     
0000001450 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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     
2 Parent #2 ?/? g.47643457G>T - MSH2_000016 rs4987188 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.965G>T, NM_001258281.1:c.767G>T r.(?) p.(Gly322Val), p.(Gly256Val)
3 Parent #2 -/- g.14189426A>G - XPC_000038 rs201597537 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2385T>C, NM_004628.4:c.2496T>C r.(=) p.(=)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
6 Parent #2 ./. g.22126007G>A - chr6_000062 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.116380867T>A - MET_000002 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ?/? g.116380868A>T - MET_000003 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
8 Parent #2 -?/-? g.90982669T>A - NBN_000039 rs147660518 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.819A>T r.(=) p.(=)
9 Parent #2 -?/-? g.21974859C>G - CDKN2A_000013 rs531597737 - Germline - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.-33G>C, NM_001195132.1:c.-33G>C, NM_058195.3:c.194-3652G>C, NM_058197.4:c.-33G>C r.(=) p.(=)
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
10 Parent #2 ?/? g.72357763A>G - PRF1_000016 rs140956842 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
13 Parent #2 ?/? g.103520471C>T - ERCC5_000069 rs587778290 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2542C>T r.(?) p.(Arg848Trp)
14 Parent #2 ?/? g.45639977del - FANCM_000094 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2160+28del r.(=) p.(=)
15 Parent #2 -/- g.89828441C>T - FANCI_000034 rs117125761 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1813C>T, NM_018193.2:c.1813C>T r.(?) p.(Leu605Phe)
16 Parent #2 ?/? g.68857277C>A - CDH1_000001 - - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1937-25C>A r.(=) p.(=)
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