Variant (rsID / SNP)

rs11677877

rs11677877 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A3. Location: chromosome 2, position 228,131,169. 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: 2:228131169
Cytoband: 2q36.3
HGVS: NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)
Allele change: Missense_H451R

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.