Variant (rsID / SNP)

rs104893748

rs104893748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,901,001. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYL3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:46901001
Cytoband: 3p21.31
HGVS: NM_000258.3(MYL3):c.445A>G (p.Met149Val)
Allele change: Missense_M149V

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 8|Hypertrophic cardiomyopathy

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.