Variant (rsID / SNP)

rs111033486

rs111033486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,867,946. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MYO7ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:76867946
Cytoband: 11q13.5
HGVS: NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
Allele change: Missense_S211G

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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