Variant (rsID / SNP)

rs3742207

rs3742207 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A1. Location: chromosome 13, position 110,818,598. Clinical significance in the table: Benign.

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Reference-table entries

COL4A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:110818598
Cytoband: 13q34
HGVS: NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)
Allele change: Missense_Q1334H

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

dbSNP
ClinVar
Ensembl
gnomAD

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