U.S. flag

An official website of the United States government

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

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: Sep 29, 2024