Variant (rsID / SNP)
rs121918074
rs121918074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTR. Location: chromosome 18, position 29,175,210. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TTRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29175210
- Cytoband
- 18q12.1
- HGVS
- NM_000371.4(TTR):c.328C>A (p.His110Asn)
- Allele change
- Missense_H110N
Associated conditions / phenotypes
Amyloidogenic transthyretin amyloidosis|Cardiovascular phenotype|Cardiomyopathy|Heart failure|Charcot-Marie-Tooth disease|Hypertrophic cardiomyopathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.