Individual #00019378

Reference -
Gender F
Geographic origin Zante
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000698 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou



Variants

19 entries on 1 page. Showing entries 1 - 19.
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.29543699G>A - ALK_000018 rs56165377 - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1464C>T r.(=) p.(=)
3 Parent #1 ./. g.37067094_37067102del - MLH1_000003 - - - - - - - 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 - - - - - - - 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.(=)
4 Parent #2 ./. g.41749328A>G - PHOX2B_000011 - - - - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.429+38T>C r.(=) p.(=)
5 Parent #2 ./. g.112176565T>A - APC_000001 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5274T>A, NM_001127510.2:c.5274T>A, NM_001127511.2:c.5220T>A r.(=) p.(=)
6 Parent #2 ./. g.35434083G>A - FANCE_000001 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
7 Parent #2 ./. g.55229263G>A - EGFR_000045 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1570G>A, NM_201282.1:c.1570G>A, NM_201283.1:c.*4727G>A, NM_201284.1:c.1570G>A r.(?), r.(=) p.(Val524Ile), p.(=)
8 Parent #2 ./. g.90996826C>G - NBN_000022 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.-37G>C r.(=) p.(=)
9 Parent #2 ./. g.35075068T>G - FANCG_000015 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1492A>C r.(?) p.(Asn498His)
10 Parent #2 ./. g.104357064C>T - SUFU_000003 - - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
11 Parent #2 ./. g.108224594G>A - ATM_000108 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8773G>A r.(?) p.(Gly2925Ser)
14 Parent #2 ./. g.45658083_45658085del - FANCM_000051 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4858_4860del r.(?) p.(Glu1622del)
15 Parent #1 ./. g.89816742_89816743insG - FANCI_000022 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+42_975+43insG, NM_018193.2:c.975+42_975+43insG r.(=) p.(=)
15 Parent #2 ./. g.89816743del - FANCI_000024 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+43del, NM_018193.2:c.975+43del r.(=) p.(=)
15 Parent #2 ./. g.89828441C>T - FANCI_000034 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1813C>T, NM_018193.2:c.1813C>T r.(?) p.(Leu605Phe)
15 Parent #2 ./. g.89838176T>G - FANCI_000010 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
16 Parent #2 ./. g.2134508G>T - TSC2_000074 rs45474795 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4285G>T, NM_001077183.1:c.4084G>T, NM_001114382.1:c.4216G>T r.(?) p.(Ala1429Ser), p.(Ala1362Ser), p.(Ala1406Ser)
16 Parent #2 ./. g.89815038G>A - FANCA_000026 rs1800348 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
19 Parent #2 ./. g.45855645C>T - ERCC2_000015 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-35G>A r.(=) p.(=)
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