Variant (rsID / SNP)

rs397514423

rs397514423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,686,822. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

BTDLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 3:15686822
Cytoband: 3p25.1
HGVS: NM_001370658.1(BTD):c.1399del (p.Trp467fs)

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.