NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) AND not specified

Clinical significance:Benign

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001699453.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)]

NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)

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.1860C>T (p.Ser620=)
HGVS:
  • NC_000017.11:g.42543866C>T
  • NG_011552.1:g.12934C>T
  • NM_000263.4:c.1860C>TMANE SELECT
  • NP_000254.2:p.Ser620=
  • NC_000017.10:g.40695884C>T
  • NM_000263.3:c.1860C>T
Links:
dbSNP: rs151013014
NCBI 1000 Genomes Browser:
rs151013014
Molecular consequence:
  • NM_000263.4:c.1860C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001922388Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001922388.1

#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: Nov 6, 2021

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