Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs147797612

MYH7

rs147797612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,888,398. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYH7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:23888398
Cytoband
14q11.2
HGVS
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
Allele change
Synonymous_E1320E

Associated conditions / phenotypes

Cardiomyopathy|Hypertrophic cardiomyopathy|Myosin storage myopathy|MYH7-related skeletal myopathy|Hypertrophic cardiomyopathy 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.