Variant (rsID / SNP)

rs144321381

rs144321381 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH8. Location: chromosome 17, position 10,315,984. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:10315984
Cytoband: 17p13.1
HGVS: NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)
Allele change: Silent

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.