NM_144573.3(NEXN):c.1820_1822del (p.Gly607del) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: Feb 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001267104.1

Allele description [Variation Report for NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)]

NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)
HGVS:
  • NC_000001.10:g.78408304_78408306del
  • NC_000001.11:g.77942621_77942623del
  • NG_016625.1:g.59107_59109del
  • NG_033243.2:g.41473_41475del
  • NM_001172309.1:c.1628_1630del
  • NM_144573.3:c.1820_1822del
  • NP_001165780.1:p.Gly543del
  • NP_653174.3:p.Gly607del
  • LRG_442t1:c.1820_1822del
  • LRG_442:g.59107_59109del
  • LRG_442p1:p.Gly607del
  • LRG_995:g.41473_41475del
  • NC_000001.10:g.78408304_78408306del
  • NC_000001.10:g.78408306_78408308del
  • NC_000001.10:g.78408306_78408308delGAG
  • NM_144573.3:c.1820_1822delGAG
Protein change:
G543del
Links:
dbSNP: rs876657928
NCBI 1000 Genomes Browser:
rs876657928
Molecular consequence:
  • NM_001172309.1:c.1628_1630del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_144573.3:c.1820_1822del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001445285Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Feb 14, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasian/Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001445285.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian/Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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