View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene

This page is now frozen. No new data will be added. No further corrections will be made.

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

LOVD - Variant listings for B3GALT6

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

40 entries
entries per page

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
Ascending
Protein Hide Protein column Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Re-site Hide Re-site column Descending
Ascending
Frequency Hide Frequency column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
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
1 - 40

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.

  Powered by LOVD v.2.0 Build 36
Enabled modules: mutalyzer, recaptcha, showmaxdbid
©2004-2014 Leiden University Medical Center