NM_000642.3(AGL):c.3363-1G>A AND Glycogen storage disease type III

Clinical significance:Likely pathogenic (Last evaluated: Feb 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409092.1

Allele description [Variation Report for NM_000642.3(AGL):c.3363-1G>A]

NM_000642.3(AGL):c.3363-1G>A

Gene:
AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_000642.3(AGL):c.3363-1G>A
HGVS:
  • NC_000001.11:g.99900635G>A
  • NG_012865.1:g.55552G>A
  • NM_000028.2:c.3363-1G>A
  • NM_000642.3:c.3363-1G>AMANE SELECT
  • NM_000643.2:c.3363-1G>A
  • NM_000644.2:c.3363-1G>A
  • NM_000646.2:c.3315-1G>A
  • NC_000001.10:g.100366191G>A
  • NM_000642.2:c.3363-1G>A
Links:
dbSNP: rs1057516513
NCBI 1000 Genomes Browser:
rs1057516513
Molecular consequence:
  • NM_000028.2:c.3363-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000642.3:c.3363-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000643.2:c.3363-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000644.2:c.3363-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000646.2:c.3315-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Glycogen storage disease type III (GSD3)
Synonyms:
Glycogen storage disease type 3; Forbes disease; Cori disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009291; MedGen: C0017922; Orphanet: 366; OMIM: 232400

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000485803Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 18, 2016)
unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

[Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle].

Wang W, We M, Song HM, Qiu ZQ, Zhang WM, Wu XY, Lu CX, Qi JM, Jing H, Li F.

Zhonghua Er Ke Za Zhi. 2009 Aug;47(8):608-12. Chinese.

PubMed [citation]
PMID:
19951495

Details of each submission

From Counsyl, SCV000485803.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center