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Variant (rsID / SNP)

rs61898615

DYNC2H1

rs61898615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,019,260. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DYNC2H1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:103019260
Cytoband
11q22.3
HGVS
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)
Allele change
Missense_E954K

Associated conditions / phenotypes

Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3

Public references

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