Variant (rsID / SNP)

rs145508517

rs145508517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,862,173. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:23862173
Cytoband: 14q11.2
HGVS: NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
Allele change: Missense_S1067G

Associated conditions / phenotypes

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.