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The FKBP14 mutation data have been added to a new database.

LOVD - Variant listings for FKBP14

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7 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

Frequency Hide Frequency column Descending

DB-ID Hide DB-ID column Descending
01 c.42_60del - Deletion Nonsense p.Thr15* - - - FKBP14_00002
01 c.143T>A
  (Reported 2 times)
- Substitution Missense p.(Met48Lys) - - - FKBP14_00006
01i c.197+5_197+8del
  (Reported 8 times)
- Deletion Splice site - - - - FKBP14_00004
03 c.362dupC
  (Reported 40 times)
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001
04 c.573_575del - Deletion In-frame deletion p.Glu191del - - - FKBP14_00003
04 c.496_498del - Deletion In-frame deletion p.Lys166del - - - FKBP14_00008
04 c.523dupG
  (Reported 2 times)
- Duplication Frameshift p.(Val175Glyfs*3) - - - FKBP14_00005
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Legend: [ FKBP14 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. Frequency: Frequency if variant is non pathogenic. FKBP14 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.