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Variant (rsID / SNP)

rs121912824

COL4A3

rs121912824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A3. Location: chromosome 2, position 228,172,614. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL4A3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:228172614
Cytoband
2q36.3
HGVS
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)
Allele change
Nonsense_R1481X

Associated conditions / phenotypes

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

Public references

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