Variant (rsID / SNP)

rs76947760

rs76947760 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC52A3. Location: chromosome 20, position 744,167. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC52A3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:744167
Cytoband: 20p13
HGVS: NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)
Allele change: Missense_L350M

Associated conditions / phenotypes

Brown-Vialetto-van Laere syndrome 1

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.