Full database search - LOVD - Leiden Open Variation Database

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The variants below are all in the ATM database, matching your query. 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 ATM, 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 ATM full legend here.

4 public entries
entries per page

Path.

Exon

DNA change

do not use

RNA change

Protein change

DB-ID

do not use

Protein_data

Frequency

RE-site

Disease

Phenotype additional

Remarks

Reference

Geographic origin

Ethnic origin

Gender

Inher.

Cons.

# Reported


?/?	4	c.2T>C + c.6405_6406insTT	-	r.(?)	p.(Met1Thr)	ATM_00002	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Stankovic 1998	-	-	-	-	-	1
?/?	4	c.2T>C + c.640_640delT	-	r.(?)	p.(Met1Thr)	ATM_00002	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Byrd et al. 1996, Stankovic 1998	-	-	-	-	-	1
?/?	4	c.2T>C	-	r.(?)	p.(Met1)	ATM_00002	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	Initiation codon changed to Thr	Gilad et al. 1996b	-	-	-	-	-	1
?/?	4	c.2T>C + c.8418+1_8418+4delGTGA	-	r.(?)	p.(Met1Thr)	ATM_00002	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	Initiation codon changed to Thr	Buzin et al 2003	-	-	-	-	-	1

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Legend: [ ATM 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. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. do not use: DNA_reported RNA change: RNA change Protein change: Protein ATM DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. do not use: DNA remark Protein_data: Protein_data Frequency: Frequency of polymorphism. RE-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Disease: Disease phenotype Phenotype additional: Phenotype, additional features Reference: Reference Geographic origin: geographic origin of patient; (France) = reported by laboratory in France, origin patient not sure geographic origin of patient; (France) = reported by laboratory in France, origin patient not sure Ethnic origin: Ethnic origin of patient Gender: Patient gender Inher.: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) unknown Cons.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) # Reported: Number of times this case has been reported

LOVD - Leiden Open Variation Database

Ataxia Telangiectasia Mutated (ATM)