Variant (rsID / SNP)

rs111033233

rs111033233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,892,635. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYO7APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:76892635
Cytoband: 11q13.5
HGVS: NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
Allele change: Missense_E968D

Associated conditions / phenotypes

Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 2

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.