NM_004006.2(DMD):c.4414C>T (p.Gln1472Ter) AND Duchenne muscular dystrophy

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1994)

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:
RCV000012008.5

Allele description

NM_004006.2(DMD):c.4414C>T (p.Gln1472Ter)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.2(DMD):c.4414C>T (p.Gln1472Ter)
HGVS:
  • NC_000023.11:g.32389605G>A
  • NG_012232.1:g.955005C>T
  • NM_004006.2:c.4414C>T
  • NP_003997.1:p.Gln1472Ter
  • LRG_199t1:c.4414C>T
  • LRG_199:g.955005C>T
  • LRG_199p1:p.Gln1472Ter
  • NC_000023.10:g.32407722G>A
Protein change:
Q1472*; GLN1472TER
Links:
OMIM: 300377.0051; dbSNP: rs128626248
NCBI 1000 Genomes Browser:
rs128626248
Molecular consequence:
  • NM_004006.2:c.4414C>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032242OMIMno assertion criteria providedPathogenic
(Jan 1, 1994)
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

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.

Roberts RG, Gardner RJ, Bobrow M.

Hum Mutat. 1994;4(1):1-11. Review.

PubMed [citation]
PMID:
7951253

Details of each submission

From OMIM, SCV000032242.1

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

Description

Roberts et al. (1994) reported, in a patient with Duchenne muscular dystrophy (DMD; 310200), a C-to-T substitution at nucleotide 4622 in exon 32, causing a stop codon at position 1472 and a truncated protein.

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

Last Updated: Mar 16, 2017