Variant (rsID / SNP)

rs10979599

rs10979599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP1. Location: chromosome 9, position 111,659,277. 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: 9:111659277
Cytoband: 9q31.3
HGVS: NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)
Allele change: Missense_T499N

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.