Variant (rsID / SNP)

rs114328138

rs114328138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,039,075. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYO15ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:18039075
Cytoband: 17p11.2
HGVS: NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=)
Allele change: Synonymous_A1511A

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 3

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.