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NM_000158.4(GBE1):c.1634A>G (p.His545Arg) AND Glycogen storage disease, type IV

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 2, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000056095.2

Allele description [Variation Report for NM_000158.4(GBE1):c.1634A>G (p.His545Arg)]

NM_000158.4(GBE1):c.1634A>G (p.His545Arg)

Gene:
GBE1:1,4-alpha-glucan branching enzyme 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p12.2
Genomic location:
Preferred name:
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)
HGVS:
  • NC_000003.12:g.81537080T>C
  • NG_011810.1:g.229721A>G
  • NM_000158.4:c.1634A>GMANE SELECT
  • NP_000149.4:p.His545Arg
  • NC_000003.11:g.81586231T>C
  • Q04446:p.His545Arg
Nucleotide change:
c.1634A>G
Protein change:
H545R; HIS545ARG
Links:
UniProtKB: Q04446#VAR_022435; OMIM: 607839.0010; dbSNP: rs137852889
NCBI 1000 Genomes Browser:
rs137852889
Molecular consequence:
  • NM_000158.4:c.1634A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glycogen storage disease, type IV (GSD4)
Synonyms:
GBE1 DEFICIENCY; GLYCOGENOSIS IV; GSD IV; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009292; MedGen: C0017923; Orphanet: 367; OMIM: 232500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000087167GeneReviews
no assertion criteria provided
pathologic
(Apr 2, 2009) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000087167.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2024