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Variant (rsID / SNP)

rs192669216

BICD2

rs192669216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BICD2. Location: chromosome 9, position 95,481,759. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BICD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:95481759
Cytoband
9q22.31
HGVS
NM_001003800.2(BICD2):c.1168C>A (p.Leu390Ile)
Allele change
Missense_L390I

Associated conditions / phenotypes

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Public references

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