SLC37A4, IVS1, G-A, +1 AND Glucose-6-phosphate transport defect

Clinical significance:Pathogenic (Last evaluated: Sep 17, 1999)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007344.3

Allele description [Variation Report for SLC37A4, IVS1, G-A, +1]

SLC37A4, IVS1, G-A, +1

Gene:
SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23
Preferred name:
SLC37A4, IVS1, G-A, +1
HGVS:
    Nucleotide change:
    IVS1, G-A, +1
    Links:
    OMIM: 602671.0012

    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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000027542OMIMno assertion criteria providedPathogenic
    (Sep 17, 1999)
    germlineliterature only

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

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

    Hou DC, Kure S, Suzuki Y, Hasegawa Y, Hara Y, Inoue T, Kida Y, Matsubara Y, Narisawa K.

    Am J Med Genet. 1999 Sep 17;86(3):253-7.

    PubMed [citation]
    PMID:
    10482875

    Details of each submission

    From OMIM, SCV000027542.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    Hou et al. (1999) determined that a patient with GSD Ib (GSD1B; 232220) was a compound heterozygote for the W118R mutation (602671.0003) and a G-to-A change at position +1 in intron 1 of the G6PT1 gene.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Jan 1, 2021

    Support Center