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NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Aug 1, 2009
Accession:
VCV000005744.2
Variation ID:
5744
Description:
single nucleotide variant
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NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)

Allele ID
20783
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 128345267 (GRCh38) GRCh38 UCSC
9: 131107546 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.131107546G>A
NC_000009.12:g.128345267G>A
NM_005094.4:c.274G>A MANE Select NP_005085.2:p.Ala92Thr missense
... more HGVS
Protein change
A92T
Other names
-
Canonical SPDI
NC_000009.12:128345266:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs137853132
ClinGen: CA117714
UniProtKB: Q6P1M0#VAR_063192
OMIM: 604194.0003
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 Aug 1, 2009 RCV000006100.3
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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
(Aug 01, 2009)
no assertion criteria provided
Method: literature only
ICHTHYOSIS PREMATURITY SYNDROME
Allele origin: germline
OMIM
Accession: SCV000026282.2
Submitted: (Dec 30, 2010)
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
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Klar J American journal of human genetics 2009 PMID: 19631310

Text-mined citations for rs137853132...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 19, 2021