Variant (rsID / SNP)

rs121912560

rs121912560 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO6. Location: chromosome 6, position 76,551,016. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MYO6Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:76551016
Cytoband: 6q14.1
HGVS: NM_004999.4(MYO6):c.737A>G (p.His246Arg)
Allele change: Missense_H246R

Associated conditions / phenotypes

Sensorineural deafness with hypertrophic cardiomyopathy|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.