Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs111033416

MYO7A

rs111033416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,883,864. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYO7AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:76883864
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
Allele change
Missense_R623H

Associated conditions / phenotypes

Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1B

Public references

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