Variant (rsID / SNP)

rs148378319

rs148378319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP1. Location: chromosome 9, position 111,663,930. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ELP1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:111663930
Cytoband: 9q31.3
HGVS: NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
Allele change: Missense_R280H

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.