Variant (rsID / SNP)
rs149585781
rs149585781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCAP, PNMT. Location: chromosome 17, position 37,822,316. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TCAPConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:37822316
- Cytoband
- 17q12
- HGVS
- NM_003673.4(TCAP):c.458G>A (p.Arg153His)
- Allele change
- Missense_R153H
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 25|Autosomal recessive limb-girdle muscular dystrophy type 2G|Hypertrophic cardiomyopathy 25|Hypertrophic cardiomyopathy 25|Primary familial hypertrophic cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.