Variant (rsID / SNP)

rs73167274

rs73167274 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2I1. Location: chromosome 7, position 158,727,230. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DYNC2I1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:158727230
Cytoband: 7q36.3
HGVS: NM_018051.5(DYNC2I1):c.2768C>A (p.Pro923Gln)
Allele change: Missense_P877Q

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.