Individual #00020128

Reference -
Gender F
Geographic origin Zacharo, Ilia
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     
0000001650 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
1 Parent #2 -?/-? g.161298189T>C - SDHC_000025  rs876659297 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.81T>C, NM_001035512.1:c.77+4729T>C, NM_001035513.1:c.21-12195T>C, NM_001278172.1:c.77+4729T>C, NM_003001.3:c.81T>C r.(=) p.(=)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
2 Parent #2 ?/? g.128028902G>C - ERCC3_000054 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1945+10C>G r.(=) p.(=)
4 Parent #2 ?/? g.55598212del - KIT_000007 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48del, NM_001093772.1:c.2349+48del r.(=) p.(=)
4 Parent #1 ?/? g.55598212dup - KIT_000006 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48dup, NM_001093772.1:c.2349+48dup r.(=) p.(=)
5 Parent #2 -?/-? g.176638488T>C - NSD1_000085 rs61756006 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.3088T>C, NM_172349.2:c.2281T>C r.(=) p.(=)
6 Parent #2 ?/? g.35420304G>C - FANCE_000006 rs13215706 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
8 Parent #2 ?/? g.30969188C>T - WRN_000045 rs201990558 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2146C>T r.(?) p.(Arg716Cys)
9 Parent #2 ?/? g.98209397C>T - PTCH1_000056 rs187104739 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4141G>A, NM_001083602.1:c.3943G>A, NM_001083603.1:c.4138G>A, NM_001083604.1:c.3688G>A, NM_001083605.1:c.3688G>A, NM_001083606.1:c.3688G>A, NM_001083607.1:c.3688G>A r.(?) p.(Val1381Met), p.(Val1315Met), p.(Val1380Met), p.(Val1230Met)
16 Parent #2 -/- g.3633222G>A - SLX4_000130 rs7196345 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5029C>T r.(?) p.(Pro1677Ser)
16 Parent #2 ?/? g.23635465del - PALB2_000059 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2749-50del 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.(=)
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