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Variant (rsID / SNP)

rs148590409

COL5A2

rs148590409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A2. Location: chromosome 2, position 189,899,822. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL5A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:189899822
Cytoband
2q32.2
HGVS
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)
Allele change
Synonymous_R1391R

Associated conditions / phenotypes

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

Public references

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