Variant (rsID / SNP)

rs571269735

rs571269735 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLOC1S3. Location: chromosome 19, position 45,682,920. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BLOC1S3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:45682920
Cytoband: 19q13.32
HGVS: NM_212550.5(BLOC1S3):c.366C>T (p.His122=)
Allele change: Synonymous_H122H

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.