NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His) AND Ichthyosis prematurity syndrome

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2009)

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:
RCV000006104.3

Allele description [Variation Report for NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His)]

NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His)

Gene:
SLC27A4:solute carrier family 27 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His)
HGVS:
  • NC_000009.12:g.128355770G>A
  • NG_017057.1:g.20211G>A
  • NM_005094.4:c.1748G>AMANE SELECT
  • NP_005085.2:p.Arg583His
  • NC_000009.11:g.131118049G>A
  • Q6P1M0:p.Arg583His
Protein change:
R583H; ARG583HIS
Links:
UniProtKB: Q6P1M0#VAR_063195; OMIM: 604194.0007; dbSNP: rs137853135
NCBI 1000 Genomes Browser:
rs137853135
Molecular consequence:
  • NM_005094.4:c.1748G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ichthyosis prematurity syndrome (IPS)
Synonyms:
Ichthyosis congenita IV
Identifiers:
MONDO: MONDO:0012089; MedGen: C1837610; Orphanet: 88621; OMIM: 608649

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
SCV000026286OMIMno assertion criteria providedPathogenic
(Aug 1, 2009)
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

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Törmä H, Vahlquist A, Bouadjar B, Dahl N, Fischer J.

Am J Hum Genet. 2009 Aug;85(2):248-53. doi: 10.1016/j.ajhg.2009.06.021. Epub 2009 Jul 23.

PubMed [citation]
PMID:
19631310
PMCID:
PMC2725242

Details of each submission

From OMIM, SCV000026286.2

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

Description

In affected members of a Middle Eastern family with ichthyosis prematurity syndrome (608649), Klar et al. (2009) identified homozygosity for a 1748G-A transition in exon 12 of the SLC27A4 gene, resulting in an arg583-to-his (R483H) mutation in the C-terminal domain.

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

Last Updated: Jun 19, 2021

Support Center