Variant (rsID / SNP)

rs772505507

rs772505507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HARS1. Location: chromosome 5, position 140,054,418. Clinical significance in the table: Likely benign.

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Reference-table entries

HARS1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:140054418
Cytoband: 5q31.3
HGVS: NM_002109.6(HARS1):c.1312-8C>T
Allele change: Silent

Associated conditions / phenotypes

Usher syndrome type 3B

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.