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Variant (rsID / SNP)

rs397514357

BTD

rs397514357 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,683,529. 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
3:15683529
Cytoband
3p25.1
HGVS
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
Allele change
Missense_P144T

Associated conditions / phenotypes

Biotinidase deficiency|Inborn genetic diseases

Public references

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