NM_000027.4(AGA):c.439T>C (p.Ser147Pro) AND Aspartylglucosaminuria

Clinical significance:Likely pathogenic

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:
RCV000049356.1

Allele description [Variation Report for NM_000027.4(AGA):c.439T>C (p.Ser147Pro)]

NM_000027.4(AGA):c.439T>C (p.Ser147Pro)

Gene:
AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q34.3
Genomic location:
Preferred name:
NM_000027.4(AGA):c.439T>C (p.Ser147Pro)
HGVS:
  • NC_000004.12:g.177438813A>G
  • NG_011845.2:g.8691T>C
  • NM_000027.4:c.439T>CMANE SELECT
  • NM_001171988.1:c.439T>C
  • NP_000018.2:p.Ser147Pro
  • NP_001165459.1:p.Ser147Pro
  • NC_000004.11:g.178359967A>G
  • NM_000027.3:c.439T>C
  • NR_033655.1:n.567T>C
Protein change:
S147P
Links:
dbSNP: rs386833428
NCBI 1000 Genomes Browser:
rs386833428
Molecular consequence:
  • NM_000027.4:c.439T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171988.1:c.439T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033655.1:n.567T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aspartylglucosaminuria (AGU)
Synonyms:
GLYCOASPARAGINASE; Aspartylglycosaminuria; Aspartylglucos-aminuria; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008830; MedGen: C0268225; Orphanet: 93; OMIM: 208400; Human Phenotype Ontology: HP:0012068

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000081788Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

PubMed (1)
[See all records that cite this PMID]

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000081788

Summary from all submissions

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

Citations

PubMed

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, B├╝rger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF.

J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26.

PubMed [citation]
PMID:
23271757

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000081788.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

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

Last Updated: Oct 7, 2021

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