Variant (rsID / SNP)

rs144282156

rs144282156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A5. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL4A5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
Allele change: Synonymous_G1423G

Associated conditions / phenotypes

X-linked 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.