Variant (rsID / SNP)

rs28939712

rs28939712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP1. Location: chromosome 9, position 111,656,342. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ELP1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:111656342
Cytoband: 9q31.3
HGVS: NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
Allele change: Missense_P565L

Associated conditions / phenotypes

Familial dysautonomia|Charcot-Marie-Tooth disease

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.