Search unique variants - Ehlers Danlos Syndrome Variant Database

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The variants below are all in the B3GALT6 database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the B3GALT6 full legend here.

40 entries
entries per page

Exon

DNA change

dbSNP

Type

Mutation Effect

Protein

RNA change

Re-site

Frequency

DB-ID


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.330Alaext72	-	-	-	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.

Ehlers Danlos Syndrome Variant Database

beta-1,3-galactosyltransferase 6 (B3GALT6)