Variant (rsID / SNP)
rs137853027
rs137853027 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC2H1. Location: chromosome 11, position 103,091,449. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DYNC2H1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:103091449
- Cytoband
- 11q22.3
- HGVS
- NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
- Allele change
- Missense_D3015G
Associated conditions / phenotypes
Asphyxiating thoracic dystrophy 3|Short rib-polydactyly syndrome|Jeune thoracic dystrophy|Fetal growth restriction|Narrow chest|Bowing of the long bones|DYNC2H1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.