Variant (rsID / SNP)

rs199568537

rs199568537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,090,692. 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: 11:103090692
Cytoband: 11q22.3
HGVS: NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)
Allele change: Missense_A2961T

Associated conditions / phenotypes

Jeune thoracic dystrophy|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.