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Variant (rsID / SNP)

rs2229813

COL4A4

rs2229813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A4. Location: chromosome 2, position 227,892,720. 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
2:227892720
Cytoband
2q36.3
HGVS
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
Allele change
Missense_V1327M

Associated conditions / phenotypes

X-linked Alport syndrome|Alport syndrome|Autosomal recessive Alport syndrome

Public references

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