Variant (rsID / SNP)

rs139091484

rs139091484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP1. Location: chromosome 9, position 111,674,660. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ELP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:111674660
Cytoband: 9q31.3
HGVS: NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)
Allele change: Missense_R9Q

Associated conditions / phenotypes

Familial dysautonomia

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.