Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs148723625

MYO15A

rs148723625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,029,678. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYO15AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:18029678
Cytoband
17p11.2
HGVS
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=)
Allele change
Synonymous_I1258I

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.