Variant (rsID / SNP)

rs145061343

rs145061343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC16A2. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC16A2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq13.2
HGVS: NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
Allele change: Missense_Q138E

Associated conditions / phenotypes

Spastic paraplegia|Intellectual disability|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.