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Variant (rsID / SNP)

rs139446305

COL1A2

rs139446305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,040,411. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL1A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:94040411
Cytoband
7q21.3
HGVS
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)
Allele change
Missense_R432Q

Associated conditions / phenotypes

Ehlers-danlos syndrome, arthrochalasia type, 2|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome, cardiac valvular type|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I

Public references

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