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Variant (rsID / SNP)

rs1800519

COL4A4

rs1800519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A4. Location: chromosome 2, position 227,919,458. 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
2:227919458
Cytoband
2q36.3
HGVS
NM_000092.5(COL4A4):c.2717-5A>T
Allele change
Silent

Associated conditions / phenotypes

Alport syndrome|Autosomal dominant Alport syndrome|Benign familial hematuria|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.