Variant (rsID / SNP)

rs863225101

rs863225101 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,895,231. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:23895231
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.2104A>G (p.Ile702Val)
Allele change: Missense_I702V

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 1|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.