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Variant (rsID / SNP)

rs104894161

EGR2

rs104894161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EGR2. Location: chromosome 10, position 64,573,323. Clinical significance in the table: Pathogenic.

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Reference-table entries

EGR2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:64573323
Cytoband
10q21.3
HGVS
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
Allele change
Missense_R359W

Associated conditions / phenotypes

Dejerine-sottas neuropathy, autosomal dominant|Charcot-Marie-Tooth disease type 1D|Dejerine-Sottas disease|Charcot-Marie-Tooth disease, type I|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.