NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000057137.1

Allele description [Variation Report for NM_006158.4(NEFL):c.418G>T (p.Glu140Ter)]

NM_006158.4(NEFL):c.418G>T (p.Glu140Ter)

Gene:
NEFL:neurofilament light [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.2
Genomic location:
Preferred name:
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter)
HGVS:
  • NC_000008.11:g.24956098C>A
  • NG_008492.1:g.5520G>T
  • NM_006158.4:c.418G>T
  • NP_006149.2:p.Glu140Ter
  • LRG_259t1:c.418G>T
  • LRG_259:g.5520G>T
  • LRG_259p1:p.Glu140Ter
  • NC_000008.10:g.24813612C>A
  • NM_006158.3:c.418G>T
Protein change:
E140*; GLU140TER
Links:
OMIM: 162280.0007; dbSNP: rs121913663
NCBI 1000 Genomes Browser:
rs121913663
Molecular consequence:
  • NM_006158.4:c.418G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000088250Epithelial Biology; Institute of Medical Biology, Singaporeno assertion providednot providednot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088250.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2018