Variant (rsID / SNP)

rs147008954

rs147008954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,593,122. 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: 9:137593122
Cytoband: 9q34.3
HGVS: NM_000093.5(COL5A1):c.597C>G (p.Ile199Met)
Allele change: Missense_I199M

Associated conditions / phenotypes

Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 2|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.