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NM_004006.2(DMD):c.433C>T (p.Arg145Ter) AND Dilated cardiomyopathy 3B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 19, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000150071.3

Allele description

NM_004006.2(DMD):c.433C>T (p.Arg145Ter)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.2(DMD):c.433C>T (p.Arg145Ter)
HGVS:
  • NC_000023.11:g.32816565G>A
  • NG_012232.1:g.528045C>T
  • NM_004006.2:c.433C>T
  • NP_003997.1:p.Arg145Ter
  • LRG_199t1:c.433C>T
  • LRG_199:g.528045C>T
  • LRG_199p1:p.Arg145Ter
  • NC_000023.10:g.32834682G>A
  • NP_003997.1:p.Arg145*
Protein change:
R145*; ARG145TER
Links:
OMIM: 300377.0032; dbSNP: rs128626235
GMAF:
0.0003(T), 128626235
NCBI 1000 Genomes Browser:
rs128626235
Molecular consequence:
  • NM_004006.2:c.433C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
4

Condition(s)

Name:
Dilated cardiomyopathy 3B (CMD3B)
Synonyms:
CARDIOMYOPATHY, DILATED, X-LINKED; CMD3B: DMD-Related Dilated Cardiomyopathy
Identifiers:
MedGen: C3668940; Orphanet: 154; OMIM: 302045

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000112511EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
criteria provided, single submitter

(EGL Classification Definitions)		Pathogenic
(May 19, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000112511.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: Oct 10, 2018