NM_000642.3(AGL):c.535_538del (p.Leu179fs) AND Glycogen storage disease type III

Clinical significance:Likely pathogenic (Last evaluated: Aug 16, 2014)

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:
RCV000984241.1

Allele description [Variation Report for NM_000642.3(AGL):c.535_538del (p.Leu179fs)]

NM_000642.3(AGL):c.535_538del (p.Leu179fs)

Gene:
AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
HGVS:
  • NC_000001.11:g.99864460_99864463del
  • NG_012865.1:g.19377_19380del
  • NM_000028.2:c.535_538del
  • NM_000642.3:c.535_538delMANE SELECT
  • NM_000643.2:c.535_538del
  • NM_000644.2:c.535_538del
  • NM_000646.2:c.487_490del
  • NP_000019.2:p.Leu179fs
  • NP_000633.2:p.Leu179fs
  • NP_000634.2:p.Leu179fs
  • NP_000635.2:p.Leu179fs
  • NP_000637.2:p.Leu163fs
  • NC_000001.10:g.100330016_100330019del
Protein change:
L163fs
Links:
dbSNP: rs794727706
NCBI 1000 Genomes Browser:
rs794727706
Molecular consequence:
  • NM_000028.2:c.535_538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000642.3:c.535_538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000643.2:c.535_538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000644.2:c.535_538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000646.2:c.487_490del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001132328Counsylno assertion criteria providedLikely pathogenic
(Aug 16, 2014)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Counsyl, SCV001132328.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 10, 2020

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