Variant (rsID / SNP)

rs185912761

rs185912761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,674,564. Clinical significance in the table: Likely benign.

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Reference-table entries

COL5A1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:137674564
Cytoband: 9q34.3
HGVS: NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp)
Allele change: Missense_R828W

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.