Variant (rsID / SNP)

rs57611801

rs57611801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A3. Location: chromosome 2, position 228,163,453. Clinical significance in the table: Benign.

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Reference-table entries

COL4A3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:228163453
Cytoband: 2q36.3
HGVS: NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)
Allele change: Missense_D1269E

Associated conditions / phenotypes

Alport syndrome|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.