Variant (rsID / SNP)

rs80338685

rs80338685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTD. Location: chromosome 3, position 15,686,731. 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: 3:15686731
Cytoband: 3p25.1
HGVS: NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
Allele change: Missense_Q458H

Associated conditions / phenotypes

Biotinidase deficiency|Intellectual disability|See cases

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.