Individual #00019231

Reference -
Gender F
Geographic origin Tripoli
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000074 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
3 Parent #2 ./. g.14190078C>T - XPC_000011 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2293G>A, NM_004628.4:c.2404G>A r.(?) p.(Gly765Ser), p.(Gly802Ser)
3 Parent #2 ./. g.37067081A>C - MLH1_000001 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-47A>C, NM_001167617.1:c.745-47A>C, NM_001167618.1:c.316-47A>C, NM_001167619.1:c.316-47A>C, NM_001258271.1:c.1039-47A>C, NM_001258273.1:c.316-47A>C, NM_001258274.1:c.316-47A>C r.(=) p.(=)
9 Parent #2 ./. g.98220619G>A - PTCH1_000010 rs45602737 - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2888-44C>T, NM_001083602.1:c.2690-44C>T, NM_001083603.1:c.2885-44C>T, NM_001083604.1:c.2435-44C>T, NM_001083605.1:c.2435-44C>T, NM_001083606.1:c.2435-44C>T, NM_001083607.1:c.2435-44C>T r.(=) p.(=)
9 Parent #2 ./. g.110888438G>A - chr9_000006 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108098592T>C - ATM_000018 rs3218690 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.162T>C r.(=) p.(=)
13 Parent #2 ./. g.49039095_49039096del - RB1_000004 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39_2212-38del r.(=) p.(=)
13 Parent #1 ./. g.49039096dup - RB1_000005 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-38dup r.(=) p.(=)
13 Parent #2 ./. g.103498672C>T - ERCC5_000012 rs34291397 - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.56C>T r.(?) p.(Pro19Leu)
17 Parent #2 ./. g.74473698C>A - RHBDF2_000003 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
Legend