Variant (rsID / SNP)

rs13027659

rs13027659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A4. Location: chromosome 2, position 227,915,847. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL4A4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:227915847
Cytoband: 2q36.3
HGVS: NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)
Allele change: Missense_G999E

Associated conditions / phenotypes

Alport syndrome

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.