Variant (rsID / SNP)

rs80033521

rs80033521 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROGDI. Location: chromosome 16, position 4,848,139. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ROGDIUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:4848139
Cytoband: 16p13.3
HGVS: NM_024589.3(ROGDI):c.578A>C (p.Tyr193Ser)
Allele change: Missense_Y193F

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.