Individual #00019320

Reference -
Gender F
Geographic origin Livadeia
Geographic origin Honduras
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     
0000000412 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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     
1 Parent #2 ./. g.45805880G>A - MUTYH_000004 rs2275602 - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.36+11C>T, NM_001048172.1:c.-239C>T, NM_001048173.1:c.-239C>T, NM_001048174.1:c.-316C>T, NM_001128425.1:c.36+11C>T, NM_012222.2:c.36+11C>T r.(=) p.(=)
2 Parent #2 ./. g.48025785A>C - MSH6_000028 rs41557217 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.663A>C, NM_001281492.1:c.273A>C, NM_001281493.1:c.-244A>C, NM_001281494.1:c.-244A>C r.(?), r.(=) p.(Glu221Asp), p.(Glu91Asp), p.(=)
3 Parent #2 ./. g.37090074A>G - MLH1_000038 rs55907433 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1963A>G, NM_001167617.1:c.1669A>G, NM_001167618.1:c.1240A>G, NM_001167619.1:c.1240A>G, NM_001258271.1:c.1896+900A>G, NM_001258273.1:c.1240A>G, NM_001258274.1:c.1240A>G r.(?), r.(=) p.(Ile655Val), p.(Ile557Val), p.(Ile414Val), p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.6042307C>T - PMS2_000034 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
9 Parent #2 ./. g.98239024_98239026del - PTCH1_000027 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1602+15_1602+17del, NM_001083602.1:c.1404+15_1404+17del, NM_001083603.1:c.1599+15_1599+17del, NM_001083604.1:c.1149+15_1149+17del, NM_001083605.1:c.1149+15_1149+17del, NM_001083606.1:c.1149+15_1149+17del, NM_001083607.1:c.1149+15_1149+17del r.(=) p.(=)
11 Parent #2 ./. g.532729C>T - HRAS_000005 - - - - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.477G>A, NM_005343.2:c.477G>A, NM_176795.3:c.*46G>A r.(=) p.(=)
14 Parent #2 ./. g.45639980T>C - FANCM_000017 rs76620062 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2160+31T>C r.(=) p.(=)
14 Parent #2 ./. g.45644997G>T - FANCM_000023 rs77532752 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.3040G>T r.(?) p.(Gly1014Cys)
14 Parent #2 ./. g.45654467A>C - FANCM_000028 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4563A>C r.(?) p.(Glu1521Asp)
16 Parent #2 ./. g.50828088C>T - CYLD_000003 - - - - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
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.(=)
18 Parent #2 ./. g.48604848C>T - SMAD4_000004 rs11663402 - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
19 Parent #2 ./. g.1219388G>A - STK11_000011 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.440G>A r.(?) p.(Arg147His)
X Parent #2 ./. g.14861817T>C - FANCB_000014 - - - - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.2452A>G, NM_152633.2:c.2452A>G r.(?) p.(Arg818Gly)
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