Individual #00020160

Reference -
Gender F
Geographic origin Kastoria
Geographic origin Egypt
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     
0000001320 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     
3 Parent #2 ?/? g.10191671C>G - VHL_000017 - - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.*22C>G, NM_198156.2:c.*22C>G r.(=) p.(=)
3 Parent #2 -?/-? g.37089156C>T - MLH1_000093 rs63751214 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1878C>T, NM_001167617.1:c.1584C>T, NM_001167618.1:c.1155C>T, NM_001167619.1:c.1155C>T, NM_001258271.1:c.1878C>T, NM_001258273.1:c.1155C>T, NM_001258274.1:c.1155C>T r.(=) p.(=)
7 Parent #2 ?/? g.55266391T>G - EGFR_000062 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2702-19T>G r.(=) p.(=)
8 Parent #2 ./. g.71012788C>A - chr8_000010 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 +/+ g.145740753_145740757del - RECQL4_000153 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1343_1347del - p.?
9 Parent #2 ?/? g.135777107A>G - TSC1_000049 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2392-21T>C, NM_001162426.1:c.2389-21T>C, NM_001162427.1:c.2239-21T>C r.(=) p.(=)
11 Parent #2 ?/? g.108200949T>C - ATM_000168 rs776266049 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7316T>C r.(?) p.(Val2439Ala)
13 Parent #2 -/- g.32968810T>C - BRCA2_000013 rs11571818 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 -/- g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
13 Parent #2 ?/? g.103506172G>A - ERCC5_000016 rs772275078 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.330G>A r.(=) p.(=)
13 Parent #2 ?/? g.103518949C>T - ERCC5_000029 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2320-33C>T r.(=) p.(=)
15 Parent #2 ?/? g.40462915A>C - BUB1B_000010 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.384+33A>C r.(=) p.(=)
15 Parent #2 -?/-? g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1928G>A r.(?) p.(Arg643His)
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