Variant (rsID / SNP)
rs137853022
rs137853022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP1. Location: chromosome 9, position 111,662,583. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ELP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:111662583
- Cytoband
- 9q31.3
- HGVS
- NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
- Allele change
- Missense_R347P
Associated conditions / phenotypes
Familial dysautonomia|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.