Individual #00021977

Reference -
Gender F
Geographic origin Giannitsa
Geographic origin Thessaloniki
Population -
Consanguinity -
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     
0000006990 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     
1 Parent #2 ?/? g.45795019T>G - MUTYH_000077 rs757615745 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1567A>C, NM_001048172.1:c.1528A>C, NM_001048173.1:c.1525A>C, NM_001048174.1:c.1525A>C, NM_001128425.1:c.1609A>C, NM_012222.2:c.1600A>C r.(?) p.(Ile523Leu), p.(Ile510Leu), p.(Ile509Leu), p.(Ile537Leu), p.(Ile534Leu)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
9 Parent #2 -?/-? g.98229498G>A - PTCH1_000108 rs766227557 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2460C>T, NM_001083602.1:c.2262C>T, NM_001083603.1:c.2457C>T, NM_001083604.1:c.2007C>T, NM_001083605.1:c.2007C>T, NM_001083606.1:c.2007C>T, NM_001083607.1:c.2007C>T r.(=) p.(=)
12 Parent #2 ./. g.112521402G>A - chr12_000004 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.2122392del - TSC2_000019 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2220+28del, NM_001077183.1:c.2220+28del, NM_001114382.1:c.2220+28del r.(=) p.(=)
16 Parent #2 -?/-? g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-15G>A, NM_001077183.1:c.3682+623G>A, NM_001114382.1:c.3814+623G>A r.(=) p.(=)
16 Parent #2 ?/? g.3658481G>A - SLX4_000173 rs140876043 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.485C>T r.(?) p.(Thr162Met)
16 Parent #2 ?/? g.23652392G>T - PALB2_000063 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.48+39C>A r.(=) p.(=)
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