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Variant (rsID / SNP)

rs116298748

COL5A2

rs116298748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A2. Location: chromosome 2, position 189,918,622. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL5A2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:189918622
Cytoband
2q32.2
HGVS
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
Allele change
Missense_P833L

Associated conditions / phenotypes

Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome

Public references

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