Variant (rsID / SNP)

rs587780588

rs587780588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A1. Location: chromosome 13, position 110,835,349. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL4A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:110835349
Cytoband: 13q34
HGVS: NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)
Allele change: Missense_G696S

Associated conditions / phenotypes

Cerebral calcification|Intracranial hemorrhage|Intraventricular hemorrhage|Abnormal corpus callosum morphology|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.