Variant (rsID / SNP)

rs786205640

rs786205640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A4. Location: chromosome 2, position 227,922,280. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL4A4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 2:227922280
Cytoband: 2q36.3
HGVS: NM_000092.5(COL4A4):c.2420del (p.Gly807fs)

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.