NM_001182.4(ALDH7A1):c.902A>T (p.Asn301Ile) AND Pyridoxine-dependent epilepsy

Clinical significance:Pathogenic (Last evaluated: Mar 31, 2008)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019617.26

Allele description [Variation Report for NM_001182.4(ALDH7A1):c.902A>T (p.Asn301Ile)]

Gene:
ALDH7A1:aldehyde dehydrogenase 7 family, member A1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.2
Genomic location:
Preferred name:
NM_001182.4(ALDH7A1):c.902A>T (p.Asn301Ile)
HGVS:
  • NC_000005.10:g.126561094T>A
  • NG_008600.2:g.39297A>T
  • NM_001182.4:c.902A>T
  • NM_001201377.1:c.818A>T
  • NM_001202404.1:c.983A>T
  • NP_001173.2:p.Asn301Ile
  • NP_001188306.1:p.Asn273Ile
  • NP_001189333.1:p.Asn328Ile
  • NC_000005.9:g.125896786T>A
Protein change:
N273I; ASN273ILE
Links:
OMIM: 107323.0008; dbSNP: 121912711
NCBI 1000 Genomes Browser:
rs121912711
Molecular consequence:
  • NM_001182.4:c.902A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pyridoxine-dependent epilepsy (EPD)
Synonyms:
Pyridoxine dependency; Pyridoxine dependency with seizures; Vitamin B6-dependent seizures; See all synonyms [MedGen]
Identifiers:
MedGen: C1849508; Orphanet: 3006; OMIM: 266100
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000039915OMIMPathogenic
(Mar 31, 2008)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W.

Hum Mutat. 2007 Jan;28(1):19-26.

PubMed [citation]
PMID:
17068770

Details of each submission

From OMIM, SCV000039915.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Plecko et al. (2007) described a patient with pyridoxine-dependent epilepsy (266100) and compound heterozygosity for mutations in the ALDH7A1 gene, a glu339-to-gln mutation (107323.0001) and an 818A-T transversion in exon 10 that resulted in an asn273-to-ile substitution (N273I).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2014

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