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LOVD - Variant listings for PPIB

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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5 entries
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Exon Hide Exon column Descending

DNA change   Descending

dbSNP Hide dbSNP column Descending

Type Hide Type column Descending

Mutation effect Hide Mutation effect column Descending

Protein Hide Protein column Descending

RNA change Hide RNA change column Descending

Re-site Hide Re-site column Descending

DB-ID Hide DB-ID column Descending
01 c.63C>A
  (Reported 2 times)
dbSNP Substitution Silent p.(=) - - PPIB_00010
02 c.178G>T dbSNP Substitution Missense p.(Val60Leu) - - PPIB_00009
03 c.324C>T dbSNP Substitution Silent p.(=) - - PPIB_00008
03i c.344-27C>T - Substitution Other - - - PPIB_00015
04 c.492C>G dbSNP Substitution Silent p.(=) - - PPIB_00007
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Legend: [ PPIB full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. PPIB DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.