Variant (rsID / SNP)

rs397514363

rs397514363 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,685,832. 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: 3:15685832
Cytoband: 3p25.1
HGVS: NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
Allele change: Missense_R159C

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.