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NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 11, 2020
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:
RCV001283827.1

Allele description [Variation Report for NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)]

NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
HGVS:
  • NC_000017.11:g.80112003C>T
  • NG_009822.1:g.15448C>T
  • NM_000152.5:c.1657C>TMANE SELECT
  • NM_001079803.3:c.1657C>T
  • NM_001079804.3:c.1657C>T
  • NP_000143.2:p.Gln553Ter
  • NP_001073271.1:p.Gln553Ter
  • NP_001073272.1:p.Gln553Ter
  • LRG_673t1:c.1657C>T
  • LRG_673:g.15448C>T
  • NC_000017.10:g.78085802C>T
  • NM_000152.2:c.1657C>T
  • NM_000152.3:c.1657C>T
Protein change:
Q553*
Links:
dbSNP: rs1221156663
NCBI 1000 Genomes Browser:
rs1221156663
Molecular consequence:
  • NM_000152.5:c.1657C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079803.3:c.1657C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079804.3:c.1657C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA (GSD1A)
Synonyms:
GSD Ia; Glycogen storage disease type 1A; Von Gierke disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009287; MedGen: C2919796; Orphanet: 364; Orphanet: 79258; OMIM: 232200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001469243Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Pathogenic
(Oct 11, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001469243.1

#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: Sep 29, 2024