Individual #00017380

Reference -
Gender F
Geographic origin Istiaia, Evia
Geographic origin Tsapournia, Evia
Population Greek
Consanguinity no
Remarks -
Panel ID 00017377
Panel size 4
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     
0000001042 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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.10088285T>G - FANCD2_000098 rs149125003 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1156T>G, NM_033084.3:c.1156T>G r.(?) p.(Phe386Val)
8 Parent #2 -/- g.118831908C>T - EXT1_000021 rs200128437 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1536+7G>A r.(=) p.(=)
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
11 Parent #2 -?/-? g.108098592T>C - ATM_000018 rs3218690 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.162T>C r.(=) p.(=)
13 Parent #2 -?/-? g.32912061G>A - BRCA2_000159 rs80358605 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3569G>A r.(?) p.(Arg1190Gln)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ?/? g.89882407G>A - FANCA_000011 rs189841793 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
17 Parent #2 -/- g.66522023C>T - PRKAR1A_000021 rs200592054 - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.678C>T, NM_001276290.1:c.678C>T, NM_002734.4:c.678C>T, NM_212471.2:c.678C>T, NM_212472.2:c.678C>T r.(=) p.(=)
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