NM_004006.2(DMD):c.7402G>T (p.Glu2468Ter) AND Duchenne muscular dystrophy

Clinical significance:Pathogenic (Last evaluated: Nov 1, 1992)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012017.11

Allele description

NM_004006.2(DMD):c.7402G>T (p.Glu2468Ter)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.2(DMD):c.7402G>T (p.Glu2468Ter)
HGVS:
  • NC_000023.11:g.31774100C>A
  • NG_012232.1:g.1570510G>T
  • NM_004006.2:c.7402G>T
  • NP_003997.1:p.Glu2468Ter
  • LRG_199t1:c.7402G>T
  • LRG_199:g.1570510G>T
  • LRG_199p1:p.Glu2468Ter
  • NC_000023.10:g.31792217C>A
Protein change:
E2468*; GLU2468TER
Links:
OMIM: 300377.0060; dbSNP: rs128626253
NCBI 1000 Genomes Browser:
rs128626253
Molecular consequence:
  • NM_004006.2:c.7402G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Duchenne muscular dystrophy (DMD)
Identifiers:
MedGen: C0013264; Orphanet: 98896; OMIM: 310200
Age of onset:
Childhood
Prevalence:
1-9 / 100 000 98896

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032251OMIMno assertion criteria providedPathogenic
(Nov 1, 1992)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.

Winnard AV, Jia-Hsu Y, Gibbs RA, Mendell JR, Burghes AH.

Hum Mol Genet. 1992 Nov;1(8):645-6. No abstract available.

PubMed [citation]
PMID:
1301174

Details of each submission

From OMIM, SCV000032251.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Winnard et al. (1992) identified, in a patient with Duchenne muscular dystrophy (DMD; 310200), the substitution of 2 nucleotides (GG to AT) at position 7609-10, encoding a stop codon in position 2468.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 30, 2017