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NM_144573.4(NEXN):c.156C>T (p.Asp52=) AND not provided

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001726046.1

Allele description [Variation Report for NM_144573.4(NEXN):c.156C>T (p.Asp52=)]

NM_144573.4(NEXN):c.156C>T (p.Asp52=)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.4(NEXN):c.156C>T (p.Asp52=)
HGVS:
  • NC_000001.11:g.77917694C>T
  • NG_016625.1:g.34180C>T
  • NM_001172309.2:c.28-266C>T
  • NM_144573.4:c.156C>TMANE SELECT
  • NP_653174.3:p.Asp52=
  • NP_653174.3:p.Asp52=
  • LRG_442t1:c.156C>T
  • LRG_442:g.34180C>T
  • LRG_442p1:p.Asp52=
  • NC_000001.10:g.78383379C>T
  • NM_144573.3:c.156C>T
  • p.Asp52Asp
Links:
dbSNP: rs371431782
NCBI 1000 Genomes Browser:
rs371431782
Molecular consequence:
  • NM_001172309.2:c.28-266C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_144573.4:c.156C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001967944Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001967944.1

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

Last Updated: Sep 29, 2024