Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143233087

TCAP

rs143233087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCAP. Location: chromosome 17, position 37,822,211. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TCAPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:37822211
Cytoband
17q12
HGVS
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
Allele change
Missense_A118V

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 25|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1

Public references

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