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Variant (rsID / SNP)

rs189728415

COL4A1

rs189728415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A1. Location: chromosome 13, position 110,818,590. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL4A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:110818590
Cytoband
13q34
HGVS
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu)
Allele change
Missense_P1337L

Associated conditions / phenotypes

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.