LOVD - Variant listings for FKBP10

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42 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

dbSNP Hide dbSNP column Descending
Ascending

Type Hide Type column Descending
Ascending

Mutation effect Hide Mutation effect column Descending
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Protein Hide Protein column Descending
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RNA change Hide RNA change column Descending
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Re-site Hide Re-site column Descending
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DB-ID Hide DB-ID column Descending
Ascending
01 c.14delG
  (Reported 2 times)
- Substitution Frameshift p.(Gly5Alafs*154) - - FKBP10_00020
01 c.21dupC
  (Reported 4 times)
- Duplication Frameshift p.(Ser8Glnfs*67) - - FKBP10_00015
01 c.122_156del
  (Reported 2 times)
- Deletion Frameshift p.(Leu41Glnfs*22) - - FKBP10_00007
01 c.179A>C - Substitution Missense p.(Gln60Pro) - - FKBP10_00107
01 c.204delinsAAA
  (Reported 2 times)
- Insertion/Deletion Frameshift p.(His68Glnfs*92) - - FKBP10_00028
02 c.288dupG
  (Reported 2 times)
- Duplication Frameshift p.(Arg97Alafs*101) - - FKBP10_00021
02 c.310C>T
  (Reported 2 times)
- Substitution Nonsense p.(Arg104*) - - FKBP10_00037
02 c.321_353del
  (Reported 2 times)
- Deletion In-frame deletion p.(Met107_Leu117del) - - FKBP10_00001
02 c.337G>A
  (Reported 4 times)
- Substitution Missense p.(Glu113Lys) - - FKBP10_00022
02 c.343C>T - Substitution Nonsense p.(Arg115*) - - FKBP10_00033
02 c.344G>A
  (Reported 5 times)
- Substitution Missense p.(Arg115Gln) - - FKBP10_00009
02i c.391+4A>T
  (Reported 4 times)
- Substitution Splice site - - - FKBP10_00031
03 c.407C>T
  (Reported 2 times)
- Substitution Missense p.(Pro136Leu) - - FKBP10_00023
04 c.590A>G dbSNP Substitution Missense p.(Lys197Arg) - - FKBP10_00003
04 c.600_604del
  (Reported 2 times)
- Deletion Frameshift p.(Tyr201Hisfs*58) - - FKBP10_00012
04 c.612C>G
  (Reported 2 times)
- Substitution Nonsense p.(Tyr204*) - - FKBP10_00038
04 c.689T>C
  (Reported 2 times)
- Substitution Missense p.(Ile230Thr) - - FKBP10_00016
05 c.732A>G dbSNP Substitution Silent p.(=) - - FKBP10_00004
05 c.743dupC
  (Reported 4 times)
- Duplication Frameshift p.(Gln249Thrfs*12) - - FKBP10_00010
05 c.764_772dup - Duplication Duplication p.(His255_Leu257dup) - - FKBP10_00026
05 c.813_814del - Deletion Frameshift p.(Glu271Aspfs*101) - - FKBP10_00040
05 c.831delC - Deletion Frameshift p.(Gly278Alafs*20) - - FKBP10_00039
05 c.831dupC
  (Reported 29 times)
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002
05 c.877_879del
  (Reported 6 times)
- Deletion In-frame deletion p.(Tyr293del) - - FKBP10_00017
05 c.879C>G - Substitution Nonsense p.(Tyr293*) - - FKBP10_00035
05i c.918-3C>G - Substitution Splice site - - - FKBP10_00036
06 c.948dupT
  (Reported 19 times)
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024
06 c.950_951dup
  (Reported 2 times)
- Duplication Frameshift p.(Gly318Serfs*48) - - FKBP10_00019
06 c.976delA
  (Reported 2 times)
- Deletion Frameshift p.(Met326Trpfs*39) - - FKBP10_00030
06 c.1016_1023dup
  (Reported 2 times)
- Duplication Frameshift p.(Thr342Glyfs*26) - - FKBP10_00006
06i c.1063+2T>C - Substitution Splice site - - - FKBP10_00108
07 c.1086delC - Deletion Frameshift p.(Val363Cysfs*2) - - FKBP10_00034
07 c.1152A>T dbSNP Substitution Silent p.(=) - - FKBP10_00005
07 c.1207C>T
  (Reported 2 times)
dbSNP Substitution Nonsense p.(Arg403*) - - FKBP10_00013
07i c.1257-2A>G
  (Reported 2 times)
- Substitution Splice site - - - FKBP10_00046
08 c.1271_1272delCCinsA
  (Reported 6 times)
- Insertion/Deletion Frameshift p.(Ala424Aspfs*12) - - FKBP10_00014
08 c.1276dupC - Duplication Frameshift p.(Gln426Profs*54) - - FKBP10_00008
08 c.1330C>T
  (Reported 2 times)
- Substitution Nonsense p.(Gln444*) - - FKBP10_00025
08 c.1345G>A
  (Reported 2 times)
- Substitution Missense p.(Gly449Arg) - - FKBP10_00018
08i c.1399+1G>A
  (Reported 2 times)
- Substitution Splice site - - - FKBP10_00011
09 c.1405G>T - Substitution Nonsense p.(Gly469*) - - FKBP10_00027
09 c.1490G>A
  (Reported 2 times)
- Substitution Nonsense p.(Trp497*) - - FKBP10_00029
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Legend: [ FKBP10 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. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
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. FKBP10 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.