Variant (rsID / SNP)

rs61985140

rs61985140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDHD1. Location: chromosome 14, position 53,619,681. Clinical significance in the table: Benign.

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Reference-table entries

DDHD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:53619681
Cytoband: 14q22.1
HGVS: NM_001160148.2(DDHD1):c.136G>A (p.Gly46Ser)
Allele change: Missense_G46S

Associated conditions / phenotypes

Hereditary spastic paraplegia 28|Hereditary spastic paraplegia

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.