Variant (rsID / SNP)

rs397514369

rs397514369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,685,920. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BTDPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:15685920
Cytoband: 3p25.1
HGVS: NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
Allele change: Missense_C188Y

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.