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Variant (rsID / SNP)

rs200466720

DYNC2H1

rs200466720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,024,116. 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
11:103024116
Cytoband
11q22.3
HGVS
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
Allele change
Missense_L1061V

Associated conditions / phenotypes

Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3|Intellectual disability

Public references

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