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NM_001164277.2(SLC37A4):c.*7T>G AND Glucose-6-phosphate transport defect

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000666106.1

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.*7T>G]

NM_001164277.2(SLC37A4):c.*7T>G

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.*7T>G
HGVS:
  • NC_000011.10:g.119024903A>C
  • NG_013331.1:g.11003T>G
  • NM_001164277.2:c.*7T>GMANE SELECT
  • NM_001164278.2:c.*7T>G
  • NM_001164279.2:c.*7T>G
  • NM_001164280.2:c.*7T>G
  • NM_001467.6:c.*7T>G
  • LRG_187t1:c.*7T>G
  • LRG_187:g.11003T>G
  • NC_000011.9:g.118895613A>C
  • NM_001164277.1:c.*7T>G
Links:
dbSNP: rs369243698
NCBI 1000 Genomes Browser:
rs369243698
Molecular consequence:
  • NM_001164277.2:c.*7T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001164278.2:c.*7T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001164279.2:c.*7T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001164280.2:c.*7T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001467.6:c.*7T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Glucose-6-phosphate transport defect (GSD1B)
Synonyms:
Glycogen storage disease type 1B; GSD Ib
Identifiers:
MONDO: MONDO:0009288; MedGen: C0268146; Orphanet: 364; Orphanet: 79259; OMIM: 232220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000790348Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Mar 16, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000790348.1

#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: Apr 15, 2024