Variant (rsID / SNP)

rs794728672

rs794728672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,869,956. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MYH11Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:15869956
Cytoband: 16p13.11
HGVS: NM_002474.3(MYH11):c.868G>C (p.Gly290Arg)
Allele change: Missense_G290R

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.