Variant (rsID / SNP)

rs28730771

rs28730771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,859,610. Clinical significance in the table: Benign.

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Reference-table entries

MYH6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:23859610
Cytoband: 14q11.2
HGVS: NM_002471.4(MYH6):c.3388G>A (p.Ala1130Thr)
Allele change: Missense_A1130T

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 14

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.