Variant (rsID / SNP)

rs182662

rs182662 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB23, BAG2. Location: chromosome 6, position 57,054,008. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RAB23Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:57054008
Cytoband: 6p12.1
HGVS: NM_016277.5(RAB23):c.*1251G>A
Allele change: Silent

Associated conditions / phenotypes

Carpenter syndrome

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.