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Variant (rsID / SNP)

rs139902197

DYNC2H1

rs139902197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,270,550. 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
11:103270550
Cytoband
11q22.3
HGVS
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val)
Allele change
Missense_L4106V

Associated conditions / phenotypes

Jeune thoracic dystrophy|Short rib-polydactyly syndrome

Public references

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