NM_144573.4(NEXN):c.363G>A (p.Thr121=) AND none provided

Clinical significance:Benign (Last evaluated: Mar 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284866.1

Allele description [Variation Report for NM_144573.4(NEXN):c.363G>A (p.Thr121=)]

NM_144573.4(NEXN):c.363G>A (p.Thr121=)

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.363G>A (p.Thr121=)
Other names:
p.T121T:ACG>ACA
HGVS:
  • NC_000001.11:g.77918189G>A
  • NG_016625.1:g.34675G>A
  • NM_001172309.1:c.171G>A
  • NM_144573.3:c.363G>A
  • NM_144573.4:c.363G>AMANE SELECT
  • NP_001165780.1:p.Thr57=
  • NP_653174.3:p.Thr121=
  • NP_653174.3:p.Thr121=
  • LRG_442t1:c.363G>A
  • LRG_442:g.34675G>A
  • LRG_442p1:p.Thr121=
  • NC_000001.10:g.78383874G>A
  • c.363G>A
  • p.Thr121Thr
Links:
dbSNP: rs35117963
NCBI 1000 Genomes Browser:
rs35117963
Molecular consequence:
  • NM_001172309.1:c.171G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144573.3:c.363G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144573.4:c.363G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001470959ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Mar 18, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001470959.1

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

Last Updated: Oct 6, 2021

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