Variant (rsID / SNP)

rs11225584

rs11225584 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,052,558. Clinical significance in the table: Benign.

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Reference-table entries

DYNC2H1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:103052558
Cytoband: 11q22.3
HGVS: NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=)
Allele change: Synonymous_N2140N

Associated conditions / phenotypes

Asphyxiating thoracic dystrophy 3|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.