Variant (rsID / SNP)

rs192722540

rs192722540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,891,399. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:23891399
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.3235C>G (p.Arg1079Gly)
Allele change: Missense_R1079W

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.