Variant (rsID / SNP)

rs181396238

rs181396238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,686,795. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BTDConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:15686795
Cytoband: 3p25.1
HGVS: NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
Allele change: Missense_A480T

Associated conditions / phenotypes

Biotinidase deficiency

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.