NM_000152.5(GAA):c.1083G>A (p.Pro361=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000727285.3

Allele description [Variation Report for NM_000152.5(GAA):c.1083G>A (p.Pro361=)]

NM_000152.5(GAA):c.1083G>A (p.Pro361=)

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.1083G>A (p.Pro361=)
HGVS:
  • NC_000017.11:g.80108496G>A
  • NG_009822.1:g.11941G>A
  • NM_000152.5:c.1083G>AMANE SELECT
  • NM_001079803.3:c.1083G>A
  • NM_001079804.3:c.1083G>A
  • NP_000143.2:p.Pro361=
  • NP_001073271.1:p.Pro361=
  • NP_001073272.1:p.Pro361=
  • LRG_673t1:c.1083G>A
  • LRG_673:g.11941G>A
  • NC_000017.10:g.78082295G>A
  • NM_000152.3:c.1083G>A
  • NM_000152.4(GAA):c.1083G>A
  • p.Pro361=
Links:
dbSNP: rs781379047
NCBI 1000 Genomes Browser:
rs781379047
Molecular consequence:
  • NM_000152.5:c.1083G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079803.3:c.1083G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079804.3:c.1083G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000707239EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 23, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000707239.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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