View all contents - X-chromosome gene database - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the RAI2 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than RAI2, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
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 RAI2 full legend here.

2 public entries
entries per page

Path.

Consang.

Ethnic origin

Geographic origin

Age_onset

Disease

Inheritance

MR

Phenotype additional

Reference

Remarks

# Reported

DB-ID

DNA change

Var_pub_as

Template

do not use

Exon

Frequency

Genetic origin

Protein

RNA change

Reference

Variant remarks

Re-site


-?/?	-	?	?	-	MRX	unknown	-	-	Raymond:Cambridge	-	5	RAI2_00001	c.1002C>A	p.P334P	DNA	SEQ	-	-	-	p.=	r.(?)	Tarpey 2009	recurrent, found 5 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-
-?/?	-	?	?	-	MRX	unknown	-	-	Raymond:Cambridge	-	1	RAI2_00002	c.1170G>A	p.T390T	DNA	SEQ	-	-	-	p.=	r.(?)	Tarpey 2009	found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-

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Legend: [ RAI2 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Ethnic origin: Ethnic origin of patient Geographic origin: Geographic origin of patient Age_onset: age at which the disease became evident; 4y8m = 4 years and 8 months Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) MR: MR Phenotype additional: Phenotype, additional features Reference: Reference describing the phenotype Remarks: Remarks # Reported: Number of times this case has been reported RAI2 DB-ID: BD-ID = database IDentifier 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. Template: Detection_Template do not use: do not use 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 Frequency: Frequency if variant is non pathogenic. 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 Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Reference: Reference = reference to publication describing variant Variant remarks: Variant remarks Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.

X-chromosome gene database

retinoic acid induced 2 (RAI2)