Search unique variants - Ehlers Danlos Syndrome Variant Database

About this overview [Show]

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.

8 entries
entries per page

Exon

DNA change

dbSNP

Type

Mutation Effect

Protein

RNA change

Re-site

Frequency

DB-ID


01	c.16C>T	-	Substitution	Missense	p.Arg6Trp	-	-	-	B3GALT6_00007
01	c.323_344del	-	Deletion	Nonsense	p.Ala108Glyfs∗163	-	-	-	B3GALT6_00002
01	c.353delA	-	Deletion	Nonsense	p.Asp118Alafs*160	-	-	-	B3GALT6_00004
01	c.415_423del	-	Deletion	In-frame deletion	p.Met139Ala141del	-	-	-	B3GALT6_00008
01	c.588delG	-	Deletion	Nonsense	p.Arg197Alafs∗81	-	-	-	B3GALT6_00006
01	c.619G>C (Reported 3 times)	-	Substitution	Missense	p.Asp207His	-	-	-	B3GALT6_00001
01	c.649G>A (Reported 2 times)	-	Substitution	Missense	p.Gly217Ser	-	-	-	B3GALT6_00003
01	c.925T>A (Reported 2 times)	-	Substitution	Missense	p.Ser309Thr	-	-	-	B3GALT6_00005

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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)