NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000059144.1

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)]

NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)

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.83G>A (p.Arg28His)
HGVS:
  • NC_000011.10:g.119029287C>T
  • NG_013331.1:g.6620G>A
  • NM_001164277.1:c.83G>A
  • NM_001164277.2:c.83G>A
  • NM_001164278.2:c.83G>A
  • NM_001164279.2:c.-172+105G>A
  • NM_001164280.2:c.83G>A
  • NM_001467.6:c.83G>A
  • NP_001157749.1:p.Arg28His
  • NP_001157749.1:p.Arg28His
  • NP_001157750.1:p.Arg28His
  • NP_001157752.1:p.Arg28His
  • NP_001458.1:p.Arg28His
  • LRG_187t1:c.83G>A
  • LRG_187:g.6620G>A
  • LRG_187p1:p.Arg28His
  • NC_000011.9:g.118899997C>T
Protein change:
R28H; ARG28HIS
Links:
UniProtKB/Swiss-Prot: VAR_016840; OMIM: 602671.0013; dbSNP: rs121908978
NCBI 1000 Genomes Browser:
rs121908978
Molecular consequence:
  • NM_001164279.2:c.-172+105G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164277.1:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164277.2:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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
SCV000090673UniProtKB/Swiss-Protno assertion providednot providedgermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

Hiraiwa H, Pan CJ, Lin B, Moses SW, Chou JY.

J Biol Chem. 1999 Feb 26;274(9):5532-6.

PubMed [citation]
PMID:
10026167

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090673.1

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

Last Updated: Oct 25, 2021

Support Center