NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001265666.1

Allele description [Variation Report for NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)]

NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)

Gene:
AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
HGVS:
  • NC_000001.11:g.99921581dup
  • NG_012865.1:g.76498dup
  • NM_000028.2:c.4529dup
  • NM_000642.3:c.4529dupMANE SELECT
  • NM_000643.2:c.4529dup
  • NM_000644.2:c.4529dup
  • NM_000646.2:c.4481dup
  • NP_000019.2:p.Tyr1510Ter
  • NP_000633.2:p.Tyr1510Ter
  • NP_000634.2:p.Tyr1510Ter
  • NP_000635.2:p.Tyr1510Ter
  • NP_000637.2:p.Tyr1494Ter
  • NC_000001.10:g.100387137dup
  • NM_000642.2:c.4529dupA
  • NM_000642.3:c.4529dupAMANE SELECT
  • NP_000633.2:p.Tyr1510*
Protein change:
Y1494*
Links:
OMIM: 610860.0001; dbSNP: rs387906244
NCBI 1000 Genomes Browser:
rs387906244
Molecular consequence:
  • NM_000028.2:c.4529dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000642.3:c.4529dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000643.2:c.4529dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000644.2:c.4529dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000646.2:c.4481dup - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001443833Ambry Geneticscriteria provided, single submitter
Pathogenic
(Mar 1, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasian/African Americangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001443833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian/African American1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 27, 2021

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