Variant (rsID / SNP)

rs201220208

rs201220208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A5. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL4A5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr)
Allele change: Nonsense_C1518X

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.