Variant (rsID / SNP)

rs56339059

rs56339059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A2. Location: chromosome 2, position 189,899,079. Clinical significance in the table: Likely benign.

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Reference-table entries

COL5A2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:189899079
Cytoband: 2q32.2
HGVS: NM_000393.5(COL5A2):c.4354-137T>C
Allele change: Silent

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.