Variant (rsID / SNP)

rs17849504

rs17849504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2I2. Location: chromosome 9, position 131,397,116. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DYNC2I2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:131397116
Cytoband: 9q34.11
HGVS: NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)
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.