Individual #00020157

Reference -
Gender F
Geographic origin Vounario, Ilia
Geographic origin Epitalio, Ilia
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     
0000001462 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
7 Parent #2 -/- g.6022638G>A - PMS2_000083 rs587781111 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2007-16C>T r.(=) p.(=)
9 Parent #2 ?/? g.35075068T>G - FANCG_000015 rs748364103 - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1492A>C r.(?) p.(Asn498His)
11 Parent #2 -/- g.108175387G>C - ATM_000035 rs3092828 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
15 Parent #2 ?/? g.40491909A>C - BUB1B_000052 rs747886467 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1382A>C r.(?) p.(Gln461Pro)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.33428338G>A - RAD51D_000020 rs730881950 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.845C>T, NM_002878.3:c.785C>T, NM_133629.2:c.449C>T r.(?) p.(Pro282Leu), p.(Pro262Leu), p.(Pro150Leu)
Legend