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Variant (rsID / SNP)

rs372227642

COL5A2

rs372227642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A2. Location: chromosome 2, position 189,974,943. 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
2:189974943
Cytoband
2q32.2
HGVS
NM_000393.5(COL5A2):c.322+8T>C
Allele change
Silent

Associated conditions / phenotypes

Ehlers-Danlos syndrome type 7A|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome

Public references

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