Variant (rsID / SNP)

rs147288996

rs147288996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HARS1. Location: chromosome 5, position 140,057,509. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HARS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:140057509
Cytoband: 5q31.3
HGVS: NM_002109.6(HARS1):c.614G>A (p.Gly205Asp)
Allele change: Missense_G131D

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.