Variant (rsID / SNP)

rs61746140

rs61746140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A5. Clinical significance in the table: Benign.

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Reference-table entries

COL4A5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=)
Allele change: Missense_T1427I

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.