Variant (rsID / SNP)

rs1445615417

rs1445615417 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A3. Location: chromosome 2, position 228,172,588. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL4A3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 2:228172588
Cytoband: 2q36.3
HGVS: NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs)

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.