Variant (rsID / SNP)

rs386833996

rs386833996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC17A5. Location: chromosome 6, position 74,325,166. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC17A5Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:74325166
Cytoband: 6q13
HGVS: NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu)
Allele change: Missense_G328E

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.