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Variant (rsID / SNP)

rs148051351

ROGDI

rs148051351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROGDI. Location: chromosome 16, position 4,851,280. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ROGDIConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:4851280
Cytoband
16p13.3
HGVS
NM_024589.3(ROGDI):c.243C>T (p.Ala81=)
Allele change
Synonymous_A81A

Associated conditions / phenotypes

Amelocerebrohypohidrotic syndrome

Public references

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