Variant (rsID / SNP)

rs2305659

rs2305659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROGDI. Location: chromosome 16, position 4,851,529. Clinical significance in the table: Likely benign.

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Reference-table entries

ROGDILikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:4851529
Cytoband: 16p13.3
HGVS: NM_024589.3(ROGDI):c.175G>A (p.Glu59Lys)
Allele change: Missense_E59K

Associated conditions / phenotypes

Amelocerebrohypohidrotic syndrome

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.