NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=) AND Glucose-6-phosphate transport defect

Clinical significance:Likely benign (Last evaluated: May 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:
RCV000667329.1

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=)]

NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=)

Gene:
SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=)
HGVS:
  • NC_000011.10:g.119029355G>C
  • NG_013331.1:g.6552C>G
  • NM_001164277.1:c.15C>G
  • NM_001164277.2:c.15C>G
  • NM_001164278.2:c.15C>G
  • NM_001164279.2:c.-172+37C>G
  • NM_001164280.2:c.15C>G
  • NM_001467.6:c.15C>G
  • NP_001157749.1:p.Gly5=
  • NP_001157749.1:p.Gly5=
  • NP_001157750.1:p.Gly5=
  • NP_001157752.1:p.Gly5=
  • NP_001458.1:p.Gly5=
  • LRG_187t1:c.15C>G
  • LRG_187:g.6552C>G
  • LRG_187p1:p.Gly5=
  • NC_000011.9:g.118900065G>C
Links:
dbSNP: rs1555191904
NCBI 1000 Genomes Browser:
rs1555191904
Molecular consequence:
  • NM_001164279.2:c.-172+37C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164277.1:c.15C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164277.2:c.15C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164278.2:c.15C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164280.2:c.15C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001467.6:c.15C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Glucose-6-phosphate transport defect (GSD1B)
Synonyms:
Glycogen storage disease type 1B; GSD Ib
Identifiers:
MedGen: C0268146; Orphanet: 364; Orphanet: 79259; OMIM: 232220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000791762Counsylcriteria provided, single submitter
Likely benign
(May 23, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000791762.1

#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: Oct 25, 2021

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