Variant (rsID / SNP)

rs546645333

rs546645333 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLOC1S3, TRAPPC6A. Location: chromosome 19, position 45,682,893. Clinical significance in the table: Benign.

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Reference-table entries

BLOC1S3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:45682893
Cytoband: 19q13.32
HGVS: NM_212550.5(BLOC1S3):c.339G>A (p.Leu113=)
Allele change: Synonymous_L113L

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.