All screenings for gene PSAT1

16 entries on 1 page. Showing entries 1 - 16.
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Screening ID

Individual ID

Template

Technique

Tissue

Remarks

Variants found

Owner
0000297138 00295967 DNA SEQ;SEQ-NG - - 1 Fatima Abdelfattah
0000297139 00295968 DNA SEQ;SEQ-NG - - 1 Fatima Abdelfattah
0000297140 00295969 DNA SEQ;SEQ-NG - - 1 Fatima Abdelfattah
0000297141 00295970 DNA SEQ;SEQ-NG - - 1 Fatima Abdelfattah
0000297142 00295971 DNA SEQ;SEQ-NG - - 1 Fatima Abdelfattah
0000297143 00295972 DNA SEQ;SEQ-NG - - 2 Fatima Abdelfattah
0000297144 00295973 DNA SEQ;SEQ-NG - - 1 Fatima Abdelfattah
0000301343 00300228 DNA SEQ - - 1 Fatima Abdelfattah
0000301344 00300229 DNA SEQ;SEQ-NG - - 1 Fatima Abdelfattah
0000301345 00300230 DNA SEQ-NG - No gene analysis in this patient, but it is presumably, because he was the brother of the screened individual #00300229 1 Fatima Abdelfattah
0000301346 00300231 DNA SEQ - the pregnancy was terminated owing the screening 2 Fatima Abdelfattah
0000301347 00295968 DNA SEQ;SEQ-NG - this individual was compound heterozygous. The confirmed maternal allel was c.181C>T g.80916929C>T p.(Arg61Trp) and the confirmed paternal allel was c.296C>T g:80919755C>T p.(Ala99Val) 1 Fatima Abdelfattah
0000301349 00300232 DNA SEQ - - 1 Fatima Abdelfattah
0000301363 00300236 DNA SEQ - - 1 Fatima Abdelfattah
0000301368 00300250 DNA SEQ - The pregenancy was terminated 1 Fatima Abdelfattah
0000301369 00300251 DNA SEQ - the variant was identified in heterozygous state in both parents and so it is presumably to be homozygous in patient 1 Fatima Abdelfattah
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