Variant (rsID / SNP)

rs12380424

rs12380424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2I2. Location: chromosome 9, position 131,403,221. Clinical significance in the table: Benign.

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Reference-table entries

DYNC2I2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:131403221
Cytoband: 9q34.11
HGVS: NM_052844.4(DYNC2I2):c.187-3C>A
Allele change: Silent

Associated conditions / phenotypes

Short-rib thoracic dysplasia 11 with or without polydactyly

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.