Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs764683617

COL5A1

rs764683617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,698,121. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL5A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:137698121
Cytoband
9q34.3
HGVS
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=)
Allele change
Synonymous_P1115P

Associated conditions / phenotypes

Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.