Individual #00019234

Reference -
Gender F
Geographic origin Kalamata
Geographic origin -
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     
0000000090 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.128017009C>T - ERCC3_000009 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
2 Parent #2 ./. g.190728798A>G - PMS1_000001 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2186A>G, NM_001128143.1:c.2069A>G, NM_001128144.1:c.1857-3727A>G r.(?), r.(=) p.(Asn729Ser), p.(Asn690Ser), p.(=)
3 Parent #2 ./. g.37067102T>A - MLH1_000007 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-26T>A, NM_001167617.1:c.745-26T>A, NM_001167618.1:c.316-26T>A, NM_001167619.1:c.316-26T>A, NM_001258271.1:c.1039-26T>A, NM_001258273.1:c.316-26T>A, NM_001258274.1:c.316-26T>A r.(=) p.(=)
5 Parent #2 ./. g.1342751A>C - chr5_000006 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.176638235T>C - NSD1_000004 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.2835T>C, NM_172349.2:c.2028T>C r.(=) p.(=)
8 Parent #2 ./. g.119123325G>C - EXT1_000001 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.-40C>G r.(=) p.(=)
8 Parent #2 ./. g.145739012G>A - RECQL4_000009 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2143C>T - p.?
9 Parent #2 ./. g.97912307T>A - FANCC_000001 rs1800365 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
16 Parent #2 ./. g.68867187C>G - CDH1_000003 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2440-6C>G r.(=) p.(=)
X Parent #2 ./. g.14868839G>A - FANCB_000003 - - - - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1327-43C>T, NM_152633.2:c.1327-43C>T r.(=) p.(=)
Legend