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NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 30, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000414827.2

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)]

NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)

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.81T>A (p.Asn27Lys)
HGVS:
  • NC_000011.10:g.119029289A>T
  • NG_013331.1:g.6618T>A
  • NM_001164277.2:c.81T>AMANE SELECT
  • NM_001164278.2:c.81T>A
  • NM_001164279.2:c.-172+103T>A
  • NM_001164280.2:c.81T>A
  • NM_001467.6:c.81T>A
  • NP_001157749.1:p.Asn27Lys
  • NP_001157749.1:p.Asn27Lys
  • NP_001157750.1:p.Asn27Lys
  • NP_001157752.1:p.Asn27Lys
  • NP_001458.1:p.Asn27Lys
  • LRG_187t1:c.81T>A
  • LRG_187:g.6618T>A
  • LRG_187p1:p.Asn27Lys
  • NC_000011.9:g.118899999A>T
  • NM_001164277.1:c.81T>A
  • NM_001164278.1:c.81T>A
Protein change:
N27K
Links:
UniProtKB/Swiss-Prot: VAR_025583; dbSNP: rs193302889
NCBI 1000 Genomes Browser:
rs193302889
Molecular consequence:
  • NM_001164279.2:c.-172+103T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164277.2:c.81T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.81T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.81T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.81T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hepatomegaly
Identifiers:
MedGen: C0019209; Human Phenotype Ontology: HP:0002240
Name:
Immunodeficiency
Identifiers:
MONDO: MONDO:0021094; MedGen: C0021051; OMIM: PS300755; Human Phenotype Ontology: HP:0002721
Name:
Recurrent respiratory infections
Identifiers:
MedGen: C3806482; Human Phenotype Ontology: HP:0002205
Name:
Splenomegaly
Synonyms:
Enlarged Spleen
Identifiers:
MedGen: C0038002; Human Phenotype Ontology: HP:0001744
Name:
Neutropenia
Identifiers:
MONDO: MONDO:0001475; MedGen: C0853697; Human Phenotype Ontology: HP:0001875
Name:
Leukopenia
Identifiers:
MONDO: MONDO:0003785; MedGen: C0023530; Human Phenotype Ontology: HP:0001882

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492606Centre for Mendelian Genomics, University Medical Centre Ljubljana
no assertion criteria provided
Likely pathogenic
(May 30, 2016) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492606.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024