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Variant (rsID / SNP)

rs1052030

MYO7A

rs1052030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,853,783. Clinical significance in the table: Benign.

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Reference-table entries

MYO7ABenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
11:76853783
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
Allele change
Missense_L16S

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 11|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|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.