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

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 15, 2021)
Last evaluated:
Jun 15, 2021
Accession:
VCV001171021.1
Variation ID:
1171021
Description:
single nucleotide variant
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NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)

Allele ID
1161576
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 128355464 (GRCh38) GRCh38 UCSC
9: 131117743 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.131117743G>A
NC_000009.12:g.128355464G>A
NM_005094.4:c.1529G>A MANE Select NP_005085.2:p.Arg510His missense
NG_017057.1:g.19905G>A
Protein change
-
Other names
R510H
Canonical SPDI
NC_000009.12:128355463:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 604194.0009
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jun 15, 2021 RCV001523895.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC27A4 - - GRCh38
GRCh37
54 96

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 15, 2021)
no assertion criteria provided
Method: literature only
ICHTHYOSIS PREMATURITY SYNDROME
Allele origin: germline
OMIM
Accession: SCV001733629.1
Submitted: (Jun 15, 2021)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome. Tsuge I Human genome variation 2015 PMID: 27081519

Record last updated Jun 22, 2021