Variant (rsID / SNP)

rs111033510

rs111033510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,885,818. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYO7ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Insertion
Chromosome / position: 11:76885818
Cytoband: 11q13.5
HGVS: NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs)

Associated conditions / phenotypes

Rare genetic deafness

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.