Variant (rsID / SNP)

rs142375870

rs142375870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAG. Location: chromosome 19, position 35,793,497. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MAGUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:35793497
Cytoband: 19q13.12
HGVS: NM_002361.4(MAG):c.1117A>C (p.Ser373Arg)
Allele change: Missense_S348R

Associated conditions / phenotypes

Hereditary spastic paraplegia|Hereditary spastic paraplegia 75

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.