Variant (rsID / SNP)
rs111033178
rs111033178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,901,153. Clinical significance in the table: Pathogenic.
Reference-table entries
MYO7APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:76901153
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
- Allele change
- Missense_R1240Q
Associated conditions / phenotypes
Usher syndrome type 1|Usher syndrome|Inborn genetic diseases|Autosomal dominant nonsyndromic hearing loss 11|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|MYO7A-Related Disorders|Autosomal recessive nonsyndromic hearing loss 2|Retinal dystrophy|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.