Individual #00020189

Reference -
Gender F
Geographic origin Agrinio
Geographic origin Patras
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     
0000001378 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.37067096_37067103del - MLH1_000058 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
5 Parent #2 ?/? g.112174691G>A - APC_000088 - - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3400G>A, NM_001127510.2:c.3400G>A, NM_001127511.2:c.3346G>A r.(?) p.(Asp1134Asn), p.(Asp1116Asn)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
7 Parent #2 -/- g.116339121G>A - MET_000051 rs144126521 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.-14-4G>A, NM_001127500.1:c.-14-4G>A r.spl? p.?
8 Parent #2 -?/-? g.145739583C>T - RECQL4_000045 rs201734382 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1868G>A - p.?
9 Parent #2 ?/? g.97869555G>C - FANCC_000035 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.1330-4C>G, NM_001243743.1:c.1330-4C>G, NM_001243744.1:c.*3923C>G r.spl?, r.(=) p.?, p.(=)
10 Parent #2 -/- g.88676992G>A - BMPR1A_000012 rs56108371 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.777G>A r.(=) p.(=)
13 Parent #2 -/- g.32906766C>T - BRCA2_000031 rs41293475 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1151C>T r.(?) p.(Ser384Phe)
16 Parent #2 -/- g.23646261G>A - PALB2_000055 rs151162255 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1606C>T r.(=) p.(=)
16 Parent #2 -?/-? g.23647146T>C - PALB2_000054 rs113217267 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.721A>G r.(?) p.(Asn241Asp)
17 Parent #2 -/- g.41244524C>T - BRCA1_000110 rs1800704 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3024G>A, NM_007297.3:c.2883G>A, NM_007298.3:c.788-1475G>A, NM_007299.3:c.788-1475G>A, NM_007300.3:c.3024G>A r.(?), r.(=) p.(Met1008Ile), p.(Met961Ile), p.(=)
17 Parent #2 -?/-? g.41244815T>C - BRCA1_000111 rs1800740 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2733A>G, NM_007297.3:c.2592A>G, NM_007298.3:c.788-1766A>G, NM_007299.3:c.788-1766A>G, NM_007300.3:c.2733A>G r.(=) p.(=)
17 Parent #2 -/- g.41246567T>C - BRCA1_000109 rs1800063 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.981A>G, NM_007297.3:c.840A>G, NM_007298.3:c.787+194A>G, NM_007299.3:c.787+194A>G, NM_007300.3:c.981A>G r.(=) p.(=)
17 Parent #2 ?/? g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1116-35G>A, NM_024599.5:c.1203-35G>A r.(=) p.(=)
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