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Variant (rsID / SNP)

rs878854166

DYNC2H1

rs878854166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,040,982. 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
11:103040982
Cytoband
11q22.3
HGVS
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro)
Allele change
Missense_L1705P

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.