Variant (rsID / SNP)

rs864622273

rs864622273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EGR2. Location: chromosome 10, position 64,573,172. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EGR2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:64573172
Cytoband: 10q21.3
HGVS: NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln)
Allele change: Missense_R409Q

Associated conditions / phenotypes

Charcot-Marie-Tooth disease, type I

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.