Variant (rsID / SNP)

rs201278558

rs201278558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC1A4. Location: chromosome 2, position 65,237,863. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC1A4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:65237863
Cytoband: 2p14
HGVS: NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys)
Allele change: Missense_E36K

Associated conditions / phenotypes

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

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.