Variant (rsID / SNP)
rs143208937
rs143208937 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA4. Location: chromosome 6, position 133,846,228. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
EYA4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:133846228
- Cytoband
- 6q23.2
- HGVS
- NM_004100.5(EYA4):c.1739-64G>A
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal dominant nonsyndromic hearing loss 10|Dilated cardiomyopathy 1J
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
