View unique variants - X-chromosome gene database - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the MAGEA4 database. 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 MAGEA4 full legend here.

5 entries
entries per page

Exon

DNA change

Var_pub_as

RNA change

Protein

DB-ID

Variant remarks

Frequency

Reference

Template

do not use

Re-site

Genetic origin


-	c.122C>T	-	r.(?)	p.S41F	MAGEA4_00001	found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Tarpey 2009	DNA	SEQ	-	-
-	c.517G>A	-	r.(?)	p.A173T	MAGEA4_00002	recurrent, found 99 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Tarpey 2009	DNA	SEQ	-	-
-	c.648C>T	p.S216S	r.(?)	p.=	MAGEA4_00003	recurrent, found 9 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Tarpey 2009	DNA	SEQ	-	-
-	c.806G>A	-	r.(?)	p.R269H	MAGEA4_00004	found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Tarpey 2009	DNA	SEQ	-	-
-	c.84A>G	p.A28A	r.(?)	p.=	MAGEA4_00005	recurrent, found 102 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Tarpey 2009	DNA	SEQ	-	-

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Legend: [ MAGEA4 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.
Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9 DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Var_pub_as: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. MAGEA4 DB-ID: BD-ID = database IDentifier Variant remarks: Variant remarks Frequency: Frequency if variant is non pathogenic. Reference: Reference = reference to publication describing variant Template: Detection_Template do not use: do not use Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Genetic origin: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences

X-chromosome gene database

melanoma antigen family A, 4 (MAGEA4)