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Variant (rsID / SNP)

rs312262720

SPG11

rs312262720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,949,428. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPG11Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
15:44949428
Cytoband
15q21.1
HGVS
NM_025137.4(SPG11):c.733_734del (p.Met245fs)

Associated conditions / phenotypes

Hereditary spastic paraplegia 11|Amyotrophic lateral sclerosis type 5|Hereditary spastic paraplegia|Inborn genetic diseases|Amyotrophic lateral sclerosis type 5|Hereditary spastic paraplegia 11|Abnormal central motor function|Charcot-Marie-Tooth disease axonal type 2X

Public references

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