NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His) AND Ichthyosis prematurity syndrome

Clinical significance:Pathogenic (Last evaluated: Jun 15, 2021)

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:
RCV001523895.1

Allele description [Variation Report for NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)]

NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)

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.1529G>A (p.Arg510His)
Other names:
R510H
HGVS:
  • NC_000009.12:g.128355464G>A
  • NG_017057.1:g.19905G>A
  • NM_005094.4:c.1529G>AMANE SELECT
  • NP_005085.2:p.Arg510His
  • NC_000009.11:g.131117743G>A
Protein change:
ARG510HIS
Links:
OMIM: 604194.0009
Molecular consequence:
  • NM_005094.4:c.1529G>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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001733629OMIMno assertion criteria providedPathogenic
(Jun 15, 2021)
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

Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome.

Tsuge I, Morishita M, Kato T, Tsutsumi M, Inagaki H, Mori Y, Yamawaki K, Inuo C, Ieda K, Ohye T, Hayakawa A, Kurahashi H.

Hum Genome Var. 2015;2:15003. doi: 10.1038/hgv.2015.3.

PubMed [citation]
PMID:
27081519
PMCID:
PMC4785586

Details of each submission

From OMIM, SCV001733629.1

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

Description

For discussion of the arg510-to-his (R510H) mutation in the SLC27A4 gene that was found in compound heterozygous state in a Japanese girl with ichthyosis prematurity syndrome (IPS; 608649) by Tsuge et al. (2015), see 604191.0008.

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

Last Updated: Jun 22, 2021

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