Variant (rsID / SNP)

rs201440191

rs201440191 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP1. Location: chromosome 9, position 111,656,238. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ELP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:111656238
Cytoband: 9q31.3
HGVS: NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
Allele change: Missense_H600Y

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.