Variant (rsID / SNP)

rs797045177

rs797045177 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,446,852. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DYNC1H1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:102446852
Cytoband: 14q32.31
HGVS: NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His)
Allele change: Missense_R309H

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 13|Lissencephaly

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.