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NM_004006.3(DMD):c.93+5G>T AND Achondroplasia

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:
RCV004694236.1

Allele description [Variation Report for NM_004006.3(DMD):c.93+5G>T]

NM_004006.3(DMD):c.93+5G>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.93+5G>T
HGVS:
  • NC_000023.11:g.33020134C>A
  • NG_012232.1:g.324476G>T
  • NM_000109.4:c.69+5G>T
  • NM_004006.3:c.93+5G>TMANE SELECT
  • NM_004009.3:c.81+5G>T
  • NM_004010.3:c.-277+5G>T
  • LRG_199:g.324476G>T
  • NC_000023.10:g.33038251C>A
Molecular consequence:
  • NM_000109.4:c.69+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004006.3:c.93+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004009.3:c.81+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004010.3:c.-277+5G>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Achondroplasia (ACH)
Synonyms:
Achondroplastic dwarfism
Identifiers:
MONDO: MONDO:0007037; MedGen: C0001080; Orphanet: 15; OMIM: 100800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005196398Phenosystems SA
no classification provided
not providedunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Phenosystems SA, SCV005196398.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Testing

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024