Variant (rsID / SNP)

rs138818907

rs138818907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,686,852. Clinical significance in the table: Pathogenic.

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Reference-table entries

BTDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:15686852
Cytoband: 3p25.1
HGVS: NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
Allele change: Missense_P499S

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.