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NM_004006.3(DMD):c.7310-36C>T AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000509484.2

Allele description [Variation Report for NM_004006.3(DMD):c.7310-36C>T]

NM_004006.3(DMD):c.7310-36C>T

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.7310-36C>T
HGVS:
  • NC_000023.11:g.31774228G>A
  • NG_012232.1:g.1570382C>T
  • NM_000109.4:c.7286-36C>T
  • NM_004006.3:c.7310-36C>TMANE SELECT
  • NM_004009.3:c.7298-36C>T
  • NM_004010.3:c.6941-36C>T
  • NM_004011.4:c.3287-36C>T
  • NM_004012.4:c.3278-36C>T
  • NM_004013.3:c.-71-36C>T
  • NM_004020.4:c.-71-36C>T
  • NM_004021.3:c.-71-36C>T
  • NM_004022.3:c.-71-36C>T
  • NM_004023.3:c.-71-36C>T
  • LRG_199t1:c.7310-36C>T
  • LRG_199:g.1570382C>T
  • NC_000023.10:g.31792345G>A
  • NM_004006.2:c.7310-36C>T
Links:
dbSNP: rs72466586
NCBI 1000 Genomes Browser:
rs72466586
Molecular consequence:
  • NM_000109.4:c.7286-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004006.3:c.7310-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004009.3:c.7298-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004010.3:c.6941-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004011.4:c.3287-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004012.4:c.3278-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004013.3:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004020.4:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004021.3:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004022.3:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004023.3:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Becker muscular dystrophy (BMD)
Synonyms:
Benign pseudohypertrophic muscular dystrophy; Becker's muscular dystrophy; Muscular dystrophy pseudohypertrophic progressive, Becker type
Identifiers:
MONDO: MONDO:0010311; MedGen: C0917713; Orphanet: 98895; OMIM: 300376
Name:
Duchenne muscular dystrophy (DMD)
Synonyms:
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Identifiers:
MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607146GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607146.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Sep 29, 2024