Variant (rsID / SNP)

rs119478057

rs119478057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCO1. Location: chromosome 16, position 81,298,282. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BCO1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:81298282
Cytoband: 16q23.2
HGVS: NM_017429.3(BCO1):c.509C>T (p.Thr170Met)
Allele change: Missense_T170M

Associated conditions / phenotypes

Hereditary hypercarotenemia and vitamin A 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.