Variant (rsID / SNP)

rs72656355

rs72656355 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,030,877. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COL1A2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:94030877
Cytoband: 7q21.3
HGVS: NM_000089.4(COL1A2):c.226-2A>G
Allele change: Silent

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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