Variant (rsID / SNP)

rs386833990

rs386833990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC17A5. Location: chromosome 6, position 74,354,130. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC17A5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:74354130
Cytoband: 6q13
HGVS: NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
Allele change: Synonymous_T97T

Associated conditions / phenotypes

Salla disease

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.