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Variant (rsID / SNP)

rs144553163

MAG

rs144553163 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAG. Location: chromosome 19, position 35,790,493. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MAGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:35790493
Cytoband
19q13.12
HGVS
NM_002361.4(MAG):c.452C>T (p.Ala151Val)
Allele change
Missense_A126V

Associated conditions / phenotypes

Hereditary spastic paraplegia|Hereditary spastic paraplegia 75

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.