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Variant (rsID / SNP)

rs890871

DNAAF3DNAAF3-AS1TNNI3

rs890871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF3, DNAAF3-AS1, TNNI3. Location: chromosome 19, position 55,672,055. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAAF3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:55672055
Cytoband
19q13.42
HGVS
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)
Allele change
Missense_L280P

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome|Familial restrictive cardiomyopathy|Dilated Cardiomyopathy, Recessive|Primary ciliary dyskinesia

Public references

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