Variant (rsID / SNP)
rs376764423
rs376764423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,919,517. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MYO7APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:76919517
- Cytoband
- 11q13.5
- HGVS
- NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
- Allele change
- Nonsense_R1967X
Associated conditions / phenotypes
Usher syndrome type 1|Retinal dystrophy|MYO7A-Related Disorders|Autosomal recessive nonsyndromic hearing loss 2|Rare genetic deafness|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.