Variant (rsID / SNP)

rs121912825

rs121912825 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A3. Location: chromosome 2, position 228,173,723. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COL4A3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:228173723
Cytoband: 2q36.3
HGVS: NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)
Allele change: Nonsense_S1524X

Associated conditions / phenotypes

Autosomal recessive Alport syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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