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Variant (rsID / SNP)

rs115324397

COL4A3

rs115324397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A3. Location: chromosome 2, position 228,110,691. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL4A3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:228110691
Cytoband
2q36.3
HGVS
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)
Allele change
Missense_P116T

Associated conditions / phenotypes

Alport syndrome|Chronic kidney disease

Public references

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