Variant (rsID / SNP)

rs2230795

rs2230795 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP1. Location: chromosome 9, position 111,653,606. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ELP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:111653606
Cytoband: 9q31.3
HGVS: NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser)
Allele change: Missense_G664S

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.