Variant (rsID / SNP)

rs387906557

rs387906557 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,850,463. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL3A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:189850463
Cytoband: 2q32.2
HGVS: NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg)
Allele change: Missense_G136R

Associated conditions / phenotypes

Ehlers-Danlos syndrome, type 4

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.