Variant (rsID / SNP)
rs374787755
rs374787755 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP1. Location: chromosome 9, position 111,651,598. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ELP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:111651598
- Cytoband
- 9q31.3
- HGVS
- NM_003640.5(ELP1):c.3222+14C>T
- Allele change
- Silent
Associated conditions / phenotypes
Familial dysautonomia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.