Unique variants in gene PPM1D

Information The variants shown are described using the NM_003620.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA 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     
./. 1 - c.1267G>T r.(?) p.(Glu423*) g.58740362G>T - chr17_000003 - - - - - - - Despoina Kalfakakou
./. 1 - c.1376del r.(?) p.(Glu459Glyfs*6) g.58740471del - chr17_000028 - - - - - - - Despoina Kalfakakou
./. 1 - c.1378del r.(?) p.(Asn460Metfs*5) g.58740473del - chr17_000004 - - - - - - - Despoina Kalfakakou
./. 1 - c.1384C>T r.(?) p.(Gln462*) g.58740479C>T - chr17_000024 - - - - - - - Despoina Kalfakakou
./. 2 - c.1405A>G r.(?) p.(Lys469Glu) g.58740500A>G - chr17_000015 rs61756416 - - - - - - Despoina Kalfakakou
./. 7 - c.1434C>T r.(=) p.(=) g.58740529C>T - chr17_000001 - - - - - - - Despoina Kalfakakou
./. 1 - c.1437_1438insA r.(?) p.(Ala481Serfs*8) g.58740532_58740533insA - chr17_000032 - - - - - - - Despoina Kalfakakou
./. 1 - c.1451T>A r.(?) p.(Leu484*) g.58740546T>A - chr17_000025 - - - - - - - Despoina Kalfakakou
./. 1 - c.1469T>A r.(?) p.(Leu490*) g.58740564T>A - chr17_000034 - - - - - - - Despoina Kalfakakou
./. 2 - c.1486A>G r.(?) p.(Ile496Val) g.58740581A>G - chr17_000020 rs35491690 - - - - - - Despoina Kalfakakou
./. 1 - c.1529del r.(?) p.(Asn512Ilefs*2) g.58740624del - chr17_000033 - - - - - - - Despoina Kalfakakou
./. 1 - c.1534A>G r.(?) p.(Asn512Asp) g.58740629A>G - chr17_000031 - - - - - - - Despoina Kalfakakou
./. 3 - c.1537T>G r.(?) p.(Leu513Val) g.58740632T>G - chr17_000021 - - - - - - - Despoina Kalfakakou
./. 3 - c.1607G>A r.(?) p.(Arg536Lys) g.58740702G>A - chr17_000005 - - - - - - - Despoina Kalfakakou
./. 1 - c.1650T>C r.(=) p.(=) g.58740745T>C - chr17_000008 - - - - - - - Despoina Kalfakakou
./. 1 - c.1688C>T r.(?) p.(Pro563Leu) g.58740783C>T - chr17_000027 - - - - - - - Despoina Kalfakakou
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