Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201193346

MYH6

rs201193346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,863,348. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYH6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:23863348
Cytoband
14q11.2
HGVS
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)
Allele change
Missense_R872C

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 14|Cardiomyopathy|Primary dilated cardiomyopathy

Public references

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