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Variant (rsID / SNP)

rs143793213

EGR2

rs143793213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EGR2. Location: chromosome 10, position 64,574,224. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EGR2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:64574224
Cytoband
10q21.3
HGVS
NM_000399.5(EGR2):c.174C>T (p.Gly58=)
Allele change
Synonymous_G58G

Associated conditions / phenotypes

Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease type 1D

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.