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Variant (rsID / SNP)

rs111033512

MYO7A

rs111033512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,867,107. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYO7AUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:76867107
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.440G>A (p.Arg147His)
Allele change
Missense_R147H

Associated conditions / phenotypes

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.