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Variant (rsID / SNP)

rs146136265

BTD

rs146136265 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,686,992. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BTDPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:15686992
Cytoband
3p25.1
HGVS
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
Allele change
Missense_D545E

Associated conditions / phenotypes

Biotinidase deficiency|See cases

Public references

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