Variant (rsID / SNP)
rs144844792
rs144844792 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,619,218. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
COL5A1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:137619218
- Cytoband
- 9q34.3
- HGVS
- NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu)
- Allele change
- Missense_S254L
Associated conditions / phenotypes
Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Cardiovascular phenotype|Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 1|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.