Individual #00020700

Reference -
Gender M
Geographic origin -
Geographic origin -
Population -
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     
0000001344 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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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     
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 -/- g.112173877C>G - APC_000040 rs147972247 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.2586C>G, NM_001127510.2:c.2586C>G, NM_001127511.2:c.2532C>G r.(?) p.(Asn862Lys), p.(Asn844Lys)
5 Parent #2 -?/-? g.176687030C>T - NSD1_000070 rs146414176 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.5007C>T, NM_172349.2:c.4200C>T r.(=) p.(=)
7 Parent #2 -?/-? g.116423528T>C - MET_000021 rs368150874 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3798+5T>C, NM_001127500.1:c.3852+5T>C r.spl? p.?
9 Parent #2 ?/? g.98231120G>A - PTCH1_000088 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2163C>T, NM_001083602.1:c.1965C>T, NM_001083603.1:c.2160C>T, NM_001083604.1:c.1710C>T, NM_001083605.1:c.1710C>T, NM_001083606.1:c.1710C>T, NM_001083607.1:c.1710C>T r.(=) p.(=)
10 Parent #2 ?/? g.43613908A>T - RET_000003 rs77724903 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2372A>T, NM_020975.4:c.2372A>T r.(?) p.(Tyr791Phe)
10 Parent #2 ?/? g.72358107T>A - PRF1_000032 - - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1370A>T, NM_005041.4:c.1370A>T r.(?) p.(Asn457Ile)
13 Parent #2 -/- g.32907129T>C - BRCA2_000157 rs28897708 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1514T>C r.(?) p.(Ile505Thr)
14 Parent #2 ?/? g.95592893T>C - DICER1_000006 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.903+24A>G, NM_001271282.1:c.903+24A>G, NM_030621.3:c.903+24A>G, NM_177438.2:c.903+24A>G r.(=) p.(=)
15 Parent #2 -/- g.89849413C>A - FANCI_000090 rs114810692 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3525C>A, NM_018193.2:c.3345C>A r.(=) p.(=)
16 Parent #2 ?/? g.14042178G>A - ERCC4_000020 rs140726146 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2725G>A r.(?) p.(Val909Ile)
16 Parent #2 -?/-? g.23646141_23646142insTCA - PALB2_000005 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
16 Parent #2 ?/? g.89815201G>A - FANCA_000039 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ?/? g.89831482_89831483del - FANCA_000043 rs577636020 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
16 Parent #2 ?/? g.89851343A>G - FANCA_000148 rs756913331 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1389T>C r.(=) p.(=)
17 Parent #2 ?/? g.41243680T>C - BRCA1_000106 rs80357254 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3868A>G, NM_007297.3:c.3727A>G, NM_007298.3:c.788-631A>G, NM_007299.3:c.788-631A>G, NM_007300.3:c.3868A>G r.(?), r.(=) p.(Lys1290Glu), p.(Lys1243Glu), p.(=)
19 Parent #2 ?/? g.45867086G>A - ERCC2_000075 rs1201076330 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1033C>T, NM_001130867.1:c.961C>T r.(?) p.(Arg345Cys), p.(Arg321Cys)
22 Parent #2 ?/? g.30067828G>A - NF2_000034 rs768053145 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1013G>A, NM_016418.5:c.1013G>A, NM_181825.2:c.1013G>A, NM_181828.2:c.887G>A, NM_181829.2:c.890G>A, NM_181830.2:c.764G>A, NM_181831.2:c.764G>A, NM_181832.2:c.1013G>A, NM_181833.2:c.448-22913G>A r.(?), r.(=) p.(Arg338His), p.(Arg296His), p.(Arg297His), p.(Arg255His), p.(=)
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