Individual #00020721

Reference -
Gender M
Geographic origin -
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     
0000006985 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.37089130A>G - MLH1_000012 rs35001569 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1852A>G, NM_001167617.1:c.1558A>G, NM_001167618.1:c.1129A>G, NM_001167619.1:c.1129A>G, NM_001258271.1:c.1852A>G, NM_001258273.1:c.1129A>G, NM_001258274.1:c.1129A>G r.(?) p.(Lys618Glu), p.(Lys520Glu), p.(Lys377Glu)
3 Parent #2 -/- g.37089131A>C - MLH1_000015 rs63750449 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1853A>C, NM_001167617.1:c.1559A>C, NM_001167618.1:c.1130A>C, NM_001167619.1:c.1130A>C, NM_001258271.1:c.1853A>C, NM_001258273.1:c.1130A>C, NM_001258274.1:c.1130A>C r.(?) p.(Lys618Thr), p.(Lys520Thr), p.(Lys377Thr)
5 Parent #2 -/- g.176638730C>T - NSD1_000030 rs541077303 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.3330C>T, NM_172349.2:c.2523C>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
9 Parent #2 +/+ g.135797205C>A - TSC1_000084 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.663+1G>T, NM_001162426.1:c.663+1G>T, NM_001162427.1:c.510+1G>T r.spl? p.?
11 Parent #2 ?/? g.61197680C>T - SDHAF2_000012 - - Germline - - - - Despoina Kalfakakou SDHAF2 - NM_017841.2:c.36+26C>T r.(=) p.(=)
13 Parent #2 -?/-? g.32906415G>A - BRCA2_000182 rs80359036 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.800G>A r.(?) p.(Gly267Glu)
16 Parent #2 -?/-? g.68863543T>C - CDH1_000024  rs755950355 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2296-14T>C r.(=) p.(=)
17 Parent #2 ?/? g.7578129C>T - TP53_000028 rs17884607 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.672+48G>A, NM_001126112.2:c.672+48G>A, NM_001126113.2:c.672+48G>A, NM_001126114.2:c.672+48G>A, NM_001126115.1:c.276+48G>A, NM_001126116.1:c.276+48G>A, NM_001126117.1:c.276+48G>A, NM_001126118.1:c.555+48G>A, NM_001276695.1:c.555+48G>A, NM_001276696.1:c.555+48G>A, NM_001276697.1:c.195+48G>A, NM_001276698.1:c.195+48G>A, NM_001276699.1:c.195+48G>A, NM_001276760.1:c.555+48G>A, NM_001276761.1:c.555+48G>A r.(=) p.(=)
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