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Variant (rsID / SNP)

rs140830294

DYNC2H1

rs140830294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,107,198. 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
11:103107198
Cytoband
11q22.3
HGVS
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)
Allele change
Missense_Q3250R

Associated conditions / phenotypes

Short rib-polydactyly syndrome|Jeune thoracic dystrophy

Public references

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