Individual #00020718

Reference -
Gender F
Geographic origin -
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     
0000001372 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
5 Parent #2 ?/? g.112116468_112116470del - APC_000089 - - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.532-19_532-17del, NM_001127510.2:c.532-19_532-17del, NM_001127511.2:c.562-19_562-17del r.(=) p.(=)
5 Parent #2 ?/? g.112179362A>G - APC_000070 rs1060503281 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.8071A>G, NM_001127510.2:c.8071A>G, NM_001127511.2:c.8017A>G r.(?) p.(Asn2691Asp), p.(Asn2673Asp)
5 Parent #2 -?/-? g.176678754G>A - NSD1_000071 rs779537845 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4665G>A, NM_172349.2:c.3858G>A r.(=) p.(=)
7 Parent #2 ?/? g.6026679T>A - PMS2_000079 rs63751211 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1717A>T r.(?) p.(Thr573Ser)
10 Parent #2 -/- g.72357857T>C - PRF1_000001 rs149776121 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1620A>G, NM_005041.4:c.1620A>G r.(=) p.(=)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
17 Parent #2 ?/? g.29557278G>A - NF1_000242 rs755501749 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2991G>A, NM_001042492.2:c.2991G>A r.(=) p.(=)
19 Parent #2 ?/? g.45859008G>A - ERCC2_000080 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1480-22C>T, NM_001130867.1:c.*3110C>T r.(=) p.(=)
Legend