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The B3GALT6 mutation data have been added to a new database.

LOVD - Variant listings for B3GALT6

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40 entries
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01 c.1A>G
  (Reported 5 times)		 - Substitution Initiating methionine p.Met1? - - - B3GALT6_00028
01 c.3G>A - Substitution Initiating methionine p.Met1? - - - B3GALT6_00016
01 c.16C>T
  (Reported 2 times)		 - Substitution Missense p.Arg6Trp - - - B3GALT6_00007
01 c.77T>C - Substitution Missense p.Leu26Pro - - - B3GALT6_00020
01 c.181G>C - Substitution Missense p.Val61Leu - - - B3GALT6_00022
01 c.193A>G - Substitution Missense p.Ser65Gly - - - B3GALT6_00032
01 c.197_253del - Deletion In-frame deletion p.Ala66_Arg84del - - - B3GALT6_00014
01 c.200C>T
  (Reported 4 times)		 - Substitution Missense p.Pro67Leu - - - B3GALT6_00033
01 c.227del - Deletion Frameshift p.Ile76Thrfs*202 - - - B3GALT6_00037
01 c.235A>G
  (Reported 8 times)		 - Substitution Missense p.Thr79Ala - - - B3GALT6_00034
01 c.308C>T - Substitution Missense p.Ala103Val - - - B3GALT6_00026
01 c.323_344del - Deletion Nonsense p.Ala108Glyfs∗163 - - - B3GALT6_00002
01 c.353delA
  (Reported 2 times)		 - Deletion Nonsense p.Asp118Alafs*160 - - - B3GALT6_00004
01 c.415_423del - Deletion In-frame deletion p.Met139Ala141del - - - B3GALT6_00008
01 c.430G>A - Substitution Missense p.Asp144Asn - - - B3GALT6_00018
01 c.466G>A - Substitution Missense p.Asp156Asn - - - B3GALT6_00030
01 c.476C>A - Substitution Missense p.Ser159Tyr - - - B3GALT6_00024
01 c.477del - Deletion Frameshift p.Phe160Serfs*118 - - - B3GALT6_00012
01 c.511C>T - Substitution Missense p.Arg171Cys - - - B3GALT6_00036
01 c.513_520del
  (Reported 3 times)		 - Deletion Frameshift p.Glu174Alafs*266 - - - B3GALT6_00011
01 c.536_541dup
  (Reported 2 times)		 - Duplication Duplication p.Arg179_Arg180dup - - - B3GALT6_00025
01 c.545A>G
  (Reported 2 times)		 - Substitution Missense p.Tyr182Cys - - - B3GALT6_00019
01 c.556T>C
  (Reported 6 times)		 - Substitution Missense p.Phe186Leu - - - B3GALT6_00023
01 c.588delG - Deletion Nonsense p.Arg197Alafs∗81 - - - B3GALT6_00006
01 c.618C>G
  (Reported 2 times)		 - Substitution Missense p.Cys206Trp - - - B3GALT6_00039
01 c.619G>C
  (Reported 3 times)		 - Substitution Missense p.Asp207His - - - B3GALT6_00001
01 c.631C>T - Substitution Missense p.Pro211Ser - - - B3GALT6_00017
01 c.649G>A
  (Reported 2 times)		 - Substitution Missense p.Gly217Ser - - - B3GALT6_00003
01 c.694C>T
  (Reported 4 times)		 - Substitution Missense p.Arg232Cys - - - B3GALT6_00029
01 c.766C>T - Substitution Missense p.Arg256Trp - - - B3GALT6_00038
01 c.782G>A - Substitution Missense p.Arg261His - - - B3GALT6_00013
01 c.795A>C
  (Reported 2 times)		 - Substitution Missense p.Glu265Asp - - - B3GALT6_00009
01 c.808G>A - Substitution Missense p.Gly270Ser - - - B3GALT6_00021
01 c.845_846delinsTA
  (Reported 2 times)		 - Insertion/Deletion Missense p.Ser282Ile - - - B3GALT6_00040
01 c.899G>C - Substitution Missense p.Cys300Ser - - - B3GALT6_00031
01 c.901_921dup - Duplication Duplication p.Lys301_Arg307dup - - - B3GALT6_00035
01 c.925T>A
  (Reported 3 times)		 - Substitution Missense p.Ser309Thr - - - B3GALT6_00005
01 c.929A>G - Substitution Missense p.Tyr310Cys - - - B3GALT6_00010
01 c.953C>T - Substitution Missense p.Pro318Leu - - - B3GALT6_00015
01 c.987_989delCTG - Deletion Frameshift p.*330Alaext*72 - - - B3GALT6_00027
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Legend: [ B3GALT6 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. B3GALT6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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