Variant (rsID / SNP)

rs137853135

rs137853135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC27A4. Location: chromosome 9, position 131,118,049. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC27A4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:131118049
Cytoband: 9q34.11
HGVS: NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His)
Allele change: Missense_R583H

Associated conditions / phenotypes

Ichthyosis prematurity syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.