Variant (rsID / SNP)

rs188023690

rs188023690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,869,526. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:23869526
Cytoband: 14q11.2
HGVS: NM_002471.4(MYH6):c.1520T>C (p.Ile507Thr)
Allele change: Missense_I507T

Associated conditions / phenotypes

Cardiovascular phenotype

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.