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Variant (rsID / SNP)

rs116003670

COL5A1

rs116003670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,582,842. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL5A1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:137582842
Cytoband
9q34.3
HGVS
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
Allele change
Missense_R65Q

Associated conditions / phenotypes

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