Variant (rsID / SNP)

rs142890619

rs142890619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,593,123. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL5A1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:137593123
Cytoband: 9q34.3
HGVS: NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
Allele change: Missense_D200N

Associated conditions / phenotypes

Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome

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.