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Variant (rsID / SNP)

rs864622357

DYNC2H1

rs864622357 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 102,995,924. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DYNC2H1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:102995924
Cytoband
11q22.3
HGVS
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly)
Allele change
Missense_V586G

Associated conditions / phenotypes

Jeune thoracic dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.