Variant (rsID / SNP)

rs202030718

rs202030718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EYA4. Location: chromosome 6, position 133,789,737. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EYA4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:133789737
Cytoband: 6q23.2
HGVS: NM_004100.5(EYA4):c.838C>A (p.Gln280Lys)
Allele change: Missense_Q257K

Associated conditions / phenotypes

Dilated cardiomyopathy 1J

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.