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Variant (rsID / SNP)

rs183563055

COL4A1

rs183563055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A1. Location: chromosome 13, position 110,844,637. 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
13:110844637
Cytoband
13q34
HGVS
NM_001845.6(COL4A1):c.1466-6C>T
Allele change
Silent

Associated conditions / phenotypes

Porencephalic cyst|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.