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Variant (rsID / SNP)

rs113452150

COL5A1

rs113452150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,716,653. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL5A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:137716653
Cytoband
9q34.3
HGVS
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)
Allele change
Missense_A1636T

Associated conditions / phenotypes

Cardiovascular phenotype|Ehlers-Danlos syndrome|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.