Variant (rsID / SNP)

rs730881091

rs730881091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,663,239. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TNNI3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:55663239
Cytoband: 19q13.42
HGVS: NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)
Allele change: Missense_V199M

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 7|Hypertrophic cardiomyopathy

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.