Variant (rsID / SNP)

rs398123030

rs398123030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BICD2. Location: chromosome 9, position 95,477,683. Clinical significance in the table: Pathogenic.

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Reference-table entries

BICD2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:95477683
Cytoband: 9q22.31
HGVS: NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly)
Allele change: Missense_E774G

Associated conditions / phenotypes

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

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.