Variant (rsID / SNP)
rs2365725
rs2365725 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF3, DNAAF3-AS1, TNNI3. Location: chromosome 19, position 55,672,470. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
DNAAF3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:55672470
- Cytoband
- 19q13.42
- HGVS
- NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)
- Allele change
- Missense_E238G
Associated conditions / phenotypes
Dilated Cardiomyopathy, Recessive|Hypertrophic cardiomyopathy|Familial restrictive cardiomyopathy|Primary ciliary dyskinesia|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome|Primary ciliary dyskinesia 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.