Variant (rsID / SNP)

rs33968748

rs33968748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO3A. Location: chromosome 10, position 26,305,773. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYO3ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:26305773
Cytoband: 10p12.1
HGVS: NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile)
Allele change: Missense_T178I

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 30

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.