Variant (rsID / SNP)

rs368058473

rs368058473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,047,110. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DYNC2H1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:103047110
Cytoband: 11q22.3
HGVS: NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro)
Allele change: Missense_A1941P

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.