Variant (rsID / SNP)

rs116193143

rs116193143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2I1. Location: chromosome 7, position 158,704,245. Clinical significance in the table: Benign.

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Reference-table entries

DYNC2I1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:158704245
Cytoband: 7q36.3
HGVS: NM_018051.5(DYNC2I1):c.1465C>G (p.Arg489Gly)
Allele change: Missense_R443G

Associated conditions / phenotypes

Short-rib thoracic dysplasia 8 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.