Variant (rsID / SNP)

rs182287137

rs182287137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP1. Location: chromosome 9, position 111,660,980. 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: 9:111660980
Cytoband: 9q31.3
HGVS: NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile)
Allele change: Missense_L403V

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.