Variant (rsID / SNP)
rs149369116
rs149369116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,582,774. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL5A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:137582774
- Cytoband
- 9q34.3
- HGVS
- NM_000093.5(COL5A1):c.126C>T (p.Leu42=)
- Allele change
- Synonymous_L42L
Associated conditions / phenotypes
Cardiovascular phenotype|Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.