Variant (rsID / SNP)

rs193261227

rs193261227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDHD1. Location: chromosome 14, position 53,521,161. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DDHD1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:53521161
Cytoband: 14q22.1
HGVS: NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys)
Allele change: Missense_S811C

Associated conditions / phenotypes

Hereditary spastic paraplegia 28

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.