Variant (rsID / SNP)
rs111033214
rs111033214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,900,393. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:76900393
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
- Allele change
- Missense_E1170K
Associated conditions / phenotypes
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Autosomal dominant nonsyndromic hearing loss 11|Retinal dystrophy|Autosomal recessive nonsyndromic hearing loss 2|Hearing loss, autosomal recessive|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.