NM_000263.4(NAGLU):c.933C>G (p.Ala311=) AND not specified

Clinical significance:Benign (Last evaluated: Feb 22, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000078461.4

Allele description [Variation Report for NM_000263.4(NAGLU):c.933C>G (p.Ala311=)]

NM_000263.4(NAGLU):c.933C>G (p.Ala311=)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
HGVS:
  • NC_000017.11:g.42541118C>G
  • NG_011552.1:g.10186C>G
  • NM_000263.4:c.933C>GMANE SELECT
  • NP_000254.2:p.Ala311=
  • NC_000017.10:g.40693136C>G
  • NM_000263.3:c.933C>G
  • NP_000254.2:p.(=)
Links:
dbSNP: rs115888189
NCBI 1000 Genomes Browser:
rs115888189
Molecular consequence:
  • NM_000263.4:c.933C>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110317EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Feb 22, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110317.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: Nov 6, 2021

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