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Variant (rsID / SNP)

rs201454788

BCS1L

rs201454788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCS1L. Location: chromosome 2, position 219,527,384. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BCS1LConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:219527384
Cytoband
2q35
HGVS
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
Allele change
Nonsense_R291X

Associated conditions / phenotypes

BCS1L-Related Disorders|Pili torti-deafness syndrome|GRACILE syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.