Variant (rsID / SNP)

rs864622111

rs864622111 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,114,420. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DYNC2H1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:103114420
Cytoband: 11q22.3
HGVS: NM_001377.3(DYNC2H1):c.9820-2A>G
Allele change: Silent

Associated conditions / phenotypes

Jeune thoracic dystrophy

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.