Variant (rsID / SNP)

rs137853028

rs137853028 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,026,205. Clinical significance in the table: Pathogenic.

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Reference-table entries

DYNC2H1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:103026205
Cytoband: 11q22.3
HGVS: NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr)
Allele change: Missense_I1240T

Associated conditions / phenotypes

Asphyxiating thoracic dystrophy 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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