NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000059137.2

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)]

NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)

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.59G>A (p.Gly20Asp)
HGVS:
  • NC_000011.10:g.119029311C>T
  • NG_013331.1:g.6596G>A
  • NM_001164277.2:c.59G>A
  • NM_001164278.2:c.59G>A
  • NM_001164279.2:c.-172+81G>A
  • NM_001164280.2:c.59G>A
  • NM_001467.6:c.59G>A
  • NP_001157749.1:p.Gly20Asp
  • NP_001157749.1:p.Gly20Asp
  • NP_001157750.1:p.Gly20Asp
  • NP_001157752.1:p.Gly20Asp
  • NP_001458.1:p.Gly20Asp
  • LRG_187t1:c.59G>A
  • LRG_187:g.6596G>A
  • LRG_187p1:p.Gly20Asp
  • NC_000011.9:g.118900021C>T
  • NM_001164277.1:c.59G>A
Protein change:
G20D
Links:
UniProtKB/Swiss-Prot: VAR_025581; dbSNP: rs193302881
NCBI 1000 Genomes Browser:
rs193302881
Molecular consequence:
  • NM_001164279.2:c.-172+81G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164277.2:c.59G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.59G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.59G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.59G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090666UniProtKB/Swiss-Protno assertion providednot providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

SCV001135039Mendelicscriteria provided, single submitter
Likely pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E.

Am J Hum Genet. 1998 Oct;63(4):976-83.

PubMed [citation]
PMID:
9758626
PMCID:
PMC1377500

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090666.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Mendelics, SCV001135039.1

#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 4, 2021

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