Individual #00020209

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Patras
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     
0000001439 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.10103845C>T - FANCD2_000027 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1777C>T, NM_033084.3:c.1777C>T r.(?) p.(Pro593Ser)
4 Parent #2 ./. g.55598212del - KIT_000007 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48del, NM_001093772.1:c.2349+48del r.(=) p.(=)
4 Parent #1 ./. g.55598212dup - KIT_000006 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48dup, NM_001093772.1:c.2349+48dup r.(=) p.(=)
8 Parent #2 ./. g.90983350T>A - NBN_000044 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.702+51A>T r.(=) p.(=)
9 Parent #2 ./. g.135772175G>T - TSC1_000013 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2976-34C>A, NM_001162426.1:c.2973-34C>A, NM_001162427.1:c.2823-34C>A r.(=) p.(=)
11 Parent #2 ./. g.111959786A>T - SDHD_000005 - - - - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.169+1089A>T, NM_001276504.1:c.197+51A>T, NM_001276506.1:c.314+51A>T, NM_003002.3:c.314+51A>T r.(=) p.(=)
14 Parent #2 ./. g.45606310A>C - FANCM_000089 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.547A>C r.(?) p.(Ser183Arg)
18 Parent #2 ./. g.43317004C>T - chr18_000002 - - - - - - - Despoina Kalfakakou - - - -
19 Parent #2 ./. g.1220702G>A - STK11_000035 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.720G>A r.(=) p.(=)
19 Parent #2 ./. g.45855445G>A - ERCC2_000086 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2190+22C>T r.(=) p.(=)
19 Parent #2 ./. g.45856521G>A - ERCC2_000084 rs3916876 - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1737C>T r.(=) p.(=)
19 Parent #2 ./. g.45868335G>A - ERCC2_000083 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.442C>T, NM_001130867.1:c.370C>T r.(?) p.(His148Tyr), p.(His124Tyr)
20 Parent #2 ./. g.60921022C>A - chr20_000003 - - - - - - - Despoina Kalfakakou - - - -
X Parent #2 ./. g.132826404C>T - GPC3_000010 rs41312608 - - - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1354G>A, NM_001164618.1:c.1237G>A, NM_001164619.1:c.1123G>A, NM_004484.3:c.1285G>A r.(?) p.(Val452Met), p.(Val413Met), p.(Val375Met), p.(Val429Met)
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