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Variant (rsID / SNP)

rs181528936

COL4A4

rs181528936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A4. Location: chromosome 2, position 227,954,602. 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
2:227954602
Cytoband
2q36.3
HGVS
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
Allele change
Missense_G481S

Public references

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