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

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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.

Exon

DNA change

Var_pub_as

RNA change

Protein

DB-ID

Variant remarks

Frequency

Reference

Template

do not use

Re-site

Genetic origin

Disease

Phenotype additional

Remarks

Reference

Geographic origin

Ethnic origin

Inheritance

Consang.

Age_exam

Age_onset

MR

# Reported


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

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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. 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. RAI2 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 Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Phenotype additional: Phenotype, additional features Remarks: Remarks Reference: Reference describing the phenotype Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient 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) Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Age_exam: age at which the individual was examined; 4y8m = 4 years and 8 months Age_onset: age at which the disease became evident; 4y8m = 4 years and 8 months MR: MR # Reported: Number of times this case has been reported

X-chromosome gene database

retinoic acid induced 2 (RAI2)