LOVD - Variant listings for CHST14

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16 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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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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01 c.85_95del
  (Reported 2 times)
- Deletion Frameshift p.(Arg29Glyfs*113) - - - CHST14_00015
01 c.145delG
  (Reported 6 times)
- Substitution Nonsense p.(Val49*) - - - CHST14_00005
01 c.205A>T - Substitution Nonsense p.(Lys69*) r.(?) - - CHST14_00001
01 c.390_397dup
  (Reported 2 times)
- Duplication Frameshift p.(Gln133Argfs*14) - - - CHST14_00014
01 c.400C>G - Substitution Missense p.(Arg134Gly) - - - CHST14_00008
01 c.410T>A - Substitution Missense p.(Leu137Gln) - - - CHST14_00009
01 c.626T>C - Substitution Missense p.(Phe209Ser) - - - CHST14_00012
01 c.638G>C
  (Reported 2 times)
- Substitution Missense p.(Arg213Pro) - - - CHST14_00007
01 c.652C>A
  (Reported 2 times)
- Substitution Missense p.(Arg218Ser) - - - CHST14_00016
01 c.676_682delinsGCTATGGGGCT
  (Reported 2 times)
- Insertion/Deletion Frameshift p.(Lys226Alafs*16) - - - CHST14_00010
01 c.821G>C
  (Reported 2 times)
- Substitution Missense p.(Arg274Pro) - - - CHST14_00011
01 c.838A>T
  (Reported 2 times)
- Substitution Missense p.(Met280Leu) - - - CHST14_00013
01 c.842C>T
  (Reported 12 times)
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002
01 c.866G>C - Substitution Missense p.(Cys289Ser) r.(?) - - CHST14_00003
01 c.878A>G
  (Reported 5 times)
- Substitution Missense p.(Tyr293Cys) r.(?) - - CHST14_00004
01 c.981_1000dup
  (Reported 2 times)
- Duplication Frameshift p.(Glu334Glyfs*107) - - - CHST14_00006
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Legend: [ CHST14 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. CHST14 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.