Variant (rsID / SNP)

rs183495554

rs183495554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,726,806. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL5A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:137726806
Cytoband: 9q34.3
HGVS: NM_000093.5(COL5A1):c.5137-11T>A
Allele change: Silent

Associated conditions / phenotypes

Ehlers-Danlos syndrome, classic type, 1

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.